Pediatric Renal Conditions: Diagnostic History and Findings

Pediatric Renal Conditions

This list provides a comprehensive overview of pediatric renal disorders, along with their specific diagnostic findings. Each entry highlights key clinical, laboratory, and imaging findings that are essential for diagnosing and understanding these conditions in pediatric patients.

Designed as a quick reference, this resource is particularly useful for medical students and professionals seeking a concise review of pediatric nephrology. It offers a practical guide for quickly identifying critical diagnostic features of renal disorders in children, aiding in effective clinical assessment and management.

Nephrotic Syndrome

Diagnostic History:

  • Sudden onset of generalized edema, particularly periorbital and lower extremity
  • Possible recent viral infection or allergic reaction
  • Decreased urine output
  • Fatigue and loss of appetite

Specific Findings:

  • Proteinuria > 40 mg/m²/hour or protein/creatinine ratio > 2.0 mg/mg
  • Hypoalbuminemia (serum albumin < 2.5 g/dL)
  • Hyperlipidemia (elevated cholesterol and triglycerides)
  • Edema (may be severe)
  • Normal blood pressure in most cases
  • Normal renal function tests (BUN, creatinine) initially
Acute Poststreptococcal Glomerulonephritis (APSGN)

Diagnostic History:

  • Recent history of streptococcal infection (usually pharyngitis or skin infection) 1-3 weeks prior
  • Sudden onset of edema, particularly periorbital
  • Decreased urine output
  • Possible gross hematuria (cola-colored urine)
  • Fatigue, malaise, and low-grade fever

Specific Findings:

  • Elevated anti-streptolysin O (ASO) or anti-DNase B titers
  • Low C3 complement levels (normalizing within 6-8 weeks)
  • Proteinuria (usually mild to moderate)
  • Microscopic or gross hematuria
  • Hypertension (in about 60-80% of cases)
  • Elevated BUN and creatinine (usually mild and transient)
  • Positive throat or skin culture for group A streptococcus (if obtained early)
Hemolytic Uremic Syndrome (HUS)

Diagnostic History:

  • Recent history of diarrhea, often bloody (typically 5-10 days prior)
  • Possible exposure to undercooked meat or unpasteurized dairy products
  • Decreased urine output
  • Fatigue, irritability, and pallor
  • Possible fever and vomiting

Specific Findings:

  • Microangiopathic hemolytic anemia (schistocytes on peripheral blood smear)
  • Thrombocytopenia (platelet count < 150,000/μL)
  • Acute kidney injury (elevated BUN and creatinine)
  • Elevated LDH and low haptoglobin
  • Negative Coombs test
  • Proteinuria and hematuria
  • Stool culture positive for E. coli O157:H7 or other Shiga toxin-producing E. coli (if obtained early)
  • Possible neurological symptoms (in severe cases)
IgA Nephropathy (Berger's Disease)

Diagnostic History:

  • Recurrent episodes of gross hematuria, often following upper respiratory infections
  • Possible persistent microscopic hematuria between episodes
  • May be asymptomatic and discovered incidentally
  • Occasional flank pain during episodes of gross hematuria

Specific Findings:

  • Microscopic or gross hematuria
  • Proteinuria (variable, from mild to nephrotic range)
  • Normal or mildly reduced renal function
  • Normal complement levels
  • Elevated serum IgA levels in some cases
  • Renal biopsy showing mesangial IgA deposits (definitive diagnosis)
  • Possible hypertension in more advanced cases
Congenital Nephrotic Syndrome (Finnish Type)

Diagnostic History:

  • Prenatal findings of elevated alpha-fetoprotein in maternal serum or amniotic fluid
  • Large placenta (> 25% of birth weight)
  • Premature birth common
  • Edema present at birth or developing within first days of life
  • Family history of consanguinity or previous affected siblings in some cases

Specific Findings:

  • Severe proteinuria (> 20-30 g/L) present from birth
  • Hypoalbuminemia (serum albumin < 1 g/dL)
  • Hyperlipidemia
  • Generalized edema
  • Normal or low birth weight for gestational age
  • Genetic testing revealing mutations in NPHS1 gene (encoding nephrin)
  • Renal biopsy showing characteristic findings (if performed)
  • Progressive renal insufficiency
Alport Syndrome

Diagnostic History:

  • Family history of kidney disease, hearing loss, or eye abnormalities
  • Persistent microscopic hematuria, often detected incidentally
  • Progressive hearing loss, typically high-frequency sensorineural
  • Visual disturbances or abnormalities (e.g., anterior lenticonus)

Specific Findings:

  • Persistent microscopic hematuria, may progress to gross hematuria
  • Proteinuria, increasing with age
  • Progressive renal insufficiency
  • Sensorineural hearing loss on audiometry
  • Ocular abnormalities (anterior lenticonus, retinal flecks)
  • Genetic testing showing mutations in COL4A3, COL4A4, or COL4A5 genes
  • Renal biopsy with characteristic electron microscopy findings
Polycystic Kidney Disease (PKD) - Autosomal Recessive

Diagnostic History:

  • Enlarged kidneys detected prenatally or in infancy
  • Family history of ARPKD in siblings (25% recurrence risk)
  • Hypertension, often severe and early-onset
  • Failure to thrive in infancy
  • Possible respiratory distress in neonates due to enlarged kidneys

Specific Findings:

  • Bilateral enlarged, echogenic kidneys on ultrasound
  • Hepatic fibrosis and portal hypertension
  • Hypertension
  • Progressive renal insufficiency
  • Genetic testing showing mutations in PKHD1 gene
  • Possible pulmonary hypoplasia in severe neonatal cases
Posterior Urethral Valves (PUV)

Diagnostic History:

  • Prenatal ultrasound showing bilateral hydronephrosis, dilated posterior urethra ("keyhole" sign)
  • Poor urinary stream or dribbling in male infants
  • Recurrent urinary tract infections
  • Failure to thrive
  • Possible urinary ascites or urinoma in severe cases

Specific Findings:

  • Voiding cystourethrogram (VCUG) showing dilated posterior urethra and vesicoureteral reflux
  • Bilateral hydronephrosis and hydroureter on ultrasound
  • Elevated serum creatinine
  • Bladder wall thickening
  • Possible renal dysplasia in severe cases
  • Cystoscopy confirming presence of posterior urethral valves
Vesicoureteral Reflux (VUR)

Diagnostic History:

  • Recurrent urinary tract infections
  • Prenatal hydronephrosis detected on ultrasound
  • Family history of VUR or renal scarring
  • Failure to thrive in some cases
  • Possible abdominal or flank pain during urinary tract infections

Specific Findings:

  • Voiding cystourethrogram (VCUG) showing reflux of urine from bladder to ureter/kidney
  • Grading of VUR from I to V based on severity
  • Renal ultrasound may show hydronephrosis or ureteral dilation
  • DMSA scan may reveal renal scarring
  • Urinalysis and urine culture positive for infection in symptomatic cases
  • Normal renal function in most cases, unless significant scarring present
Bartter Syndrome

Diagnostic History:

  • Polyuria and polydipsia from infancy
  • Failure to thrive
  • Recurrent episodes of dehydration
  • Possible premature birth or polyhydramnios during pregnancy
  • Muscle weakness or cramping

Specific Findings:

  • Hypokalemia
  • Metabolic alkalosis
  • Hypochloremia
  • Normal or low blood pressure
  • Elevated renin and aldosterone levels
  • Hypercalciuria
  • Genetic testing showing mutations in SLC12A1, KCNJ1, CLCNKB, BSND, or CASR genes
Gitelman Syndrome

Diagnostic History:

  • Often asymptomatic in childhood, diagnosed in adolescence or adulthood
  • Fatigue, muscle weakness, or cramps
  • Salt craving
  • Possible growth delay
  • Episodes of tetany or paralysis in severe cases

Specific Findings:

  • Hypokalemia
  • Metabolic alkalosis
  • Hypomagnesemia
  • Hypocalciuria
  • Normal or low blood pressure
  • Elevated renin and aldosterone levels
  • Genetic testing showing mutations in SLC12A3 gene
Renal Tubular Acidosis (RTA) - Distal (Type 1)

Diagnostic History:

  • Failure to thrive
  • Recurrent vomiting
  • Dehydration episodes
  • Muscle weakness
  • Possible family history of RTA or associated syndromes

Specific Findings:

  • Metabolic acidosis with normal anion gap
  • Inability to lower urine pH below 5.5 despite systemic acidosis
  • Hypokalemia
  • Nephrocalcinosis or kidney stones
  • Hypercalciuria
  • Rickets or osteomalacia in untreated cases
  • Genetic testing may reveal mutations in ATP6V0A4, ATP6V1B1, or SLC4A1 genes
Proximal Renal Tubular Acidosis (Type 2)

Diagnostic History:

  • Failure to thrive
  • Polyuria and polydipsia
  • Muscle weakness
  • Rickets
  • May be part of Fanconi syndrome

Specific Findings:

  • Metabolic acidosis with normal anion gap
  • Low serum bicarbonate
  • Inappropriately high urine pH (>5.5) during acidosis
  • Bicarbonaturia (fractional excretion of bicarbonate >15% at normal serum bicarbonate)
  • Hypokalemia
  • Hypophosphatemia, aminoaciduria, glucosuria if part of Fanconi syndrome
  • May be associated with cystinosis, Wilson disease, or other metabolic disorders
Cystinuria

Diagnostic History:

  • Recurrent kidney stones, often starting in childhood or adolescence
  • Flank pain or hematuria during stone episodes
  • Family history of kidney stones
  • No symptoms between stone episodes in most cases

Specific Findings:

  • Hexagonal cystine crystals in urine sediment
  • Positive cyanide-nitroprusside test in urine
  • Elevated urinary cystine excretion (>400 mg/day in adults, >60 mg/1.73m²/day in children)
  • Radiopaque stones on abdominal X-ray
  • Genetic testing showing mutations in SLC3A1 or SLC7A9 genes
  • Stone analysis confirming cystine composition
Nephronophthisis

Diagnostic History:

  • Polyuria and polydipsia
  • Progressive renal insufficiency
  • Anemia
  • Growth retardation
  • Possible extrarenal manifestations (retinitis pigmentosa, liver fibrosis, cerebellar ataxia)

Specific Findings:

  • Elevated serum creatinine and BUN
  • Mild proteinuria
  • Renal ultrasound showing normal or small-sized kidneys with increased echogenicity and cysts at corticomedullary junction
  • Urine concentrating defect (low urine osmolality)
  • Genetic testing showing mutations in NPHP genes
  • Renal biopsy showing characteristic tubular basement membrane changes and interstitial fibrosis
Denys-Drash Syndrome

Diagnostic History:

  • Early-onset nephrotic syndrome (often within first year of life)
  • Ambiguous genitalia or male pseudohermaphroditism
  • Increased risk of Wilms tumor
  • Rapid progression to end-stage renal disease

Specific Findings:

  • Proteinuria progressing to nephrotic syndrome
  • Renal insufficiency
  • Genetic testing showing mutations in WT1 gene
  • Renal ultrasound may show renal masses (Wilms tumor)
  • Renal biopsy showing diffuse mesangial sclerosis
  • Karyotype often 46,XY with varying degrees of genital ambiguity
Renal Coloboma Syndrome (Papillorenal Syndrome)

Diagnostic History:

  • Visual impairment or anomalies noted in infancy or early childhood
  • Variable renal manifestations, from asymptomatic to renal insufficiency
  • Possible family history of kidney or eye abnormalities

Specific Findings:

  • Optic nerve coloboma or dysplasia
  • Renal hypodysplasia or aplasia (often unilateral)
  • Vesicoureteral reflux in some cases
  • Variable proteinuria and renal function
  • Genetic testing showing mutations in PAX2 gene
  • Renal ultrasound showing small, cystic, or absent kidney(s)
Congenital Anomalies of the Kidney and Urinary Tract (CAKUT)

Diagnostic History:

  • Often detected on prenatal ultrasound
  • Family history of kidney or urinary tract abnormalities in some cases
  • May be asymptomatic or present with urinary tract infections, flank pain, or hematuria

Specific Findings:

  • Wide spectrum of anomalies including renal agenesis, renal hypodysplasia, horseshoe kidney, duplex collecting system, ureteropelvic junction obstruction, vesicoureteral reflux, etc.
  • Renal ultrasound showing structural abnormalities
  • Voiding cystourethrogram (VCUG) may show reflux or obstruction
  • Renal function may be normal or impaired depending on severity
  • Genetic testing may reveal mutations in various genes (e.g., PAX2, HNF1B, GDNF, RET)
Fanconi Syndrome

Diagnostic History:

  • Polyuria and polydipsia
  • Failure to thrive
  • Rickets or osteomalacia
  • Muscle weakness
  • May be primary or secondary to various disorders (e.g., cystinosis, Wilson disease)

Specific Findings:

  • Generalized proximal tubular dysfunction
  • Glucosuria with normal blood glucose
  • Aminoaciduria
  • Phosphaturia leading to hypophosphatemia
  • Renal tubular acidosis (type 2)
  • Low molecular weight proteinuria
  • Hypokalemia
  • Polyuria
  • If secondary, findings related to underlying condition (e.g., cystine crystals in cystinosis)
Renal Glycosuria

Diagnostic History:

  • Often asymptomatic and discovered incidentally
  • Possible family history (autosomal dominant inheritance)
  • No symptoms of diabetes mellitus

Specific Findings:

  • Persistent glucosuria with normal blood glucose levels
  • Normal oral glucose tolerance test
  • No other signs of proximal tubular dysfunction
  • Normal kidney function and structure
  • Genetic testing may show mutations in SLC5A2 gene
Lowe Syndrome (Oculocerebrorenal Syndrome)

Diagnostic History:

  • Congenital cataracts
  • Hypotonia in infancy
  • Developmental delay
  • Seizures in some cases
  • Progressive renal dysfunction

Specific Findings:

  • Bilateral congenital cataracts
  • Renal Fanconi syndrome (proximal tubular dysfunction)
  • Proteinuria
  • Aminoaciduria
  • Renal tubular acidosis
  • Hypophosphatemic rickets
  • Elevated serum creatine kinase
  • Genetic testing showing mutations in OCRL gene
Dent Disease

Diagnostic History:

  • Often asymptomatic in childhood
  • Recurrent kidney stones or nephrocalcinosis
  • Progressive renal insufficiency in adulthood
  • X-linked inheritance pattern

Specific Findings:

  • Low molecular weight proteinuria
  • Hypercalciuria
  • Nephrocalcinosis or nephrolithiasis
  • Hypophosphatemia
  • Rickets or osteomalacia in some cases
  • Progressive renal insufficiency
  • Genetic testing showing mutations in CLCN5 or OCRL genes
Medullary Sponge Kidney

Diagnostic History:

  • Often asymptomatic and discovered incidentally
  • Recurrent kidney stones or urinary tract infections in some cases
  • Hematuria or flank pain during stone episodes

Specific Findings:

  • Characteristic appearance on intravenous pyelogram (IVP) showing "bouquet of flowers" in papillary ducts
  • Nephrocalcinosis
  • Hypercalciuria in some cases
  • Renal stones (usually calcium-based)
  • Normal renal function in most cases
  • CT scan may show dilated collecting ducts and small cysts in renal pyramids
Renal Tubular Dysgenesis

Diagnostic History:

  • Severe oligohydramnios during pregnancy
  • Potter sequence (facial dysmorphism, limb deformities, pulmonary hypoplasia)
  • Anuria or severe oliguria in newborn
  • Refractory hypotension

Specific Findings:

  • Absence or paucity of proximal tubules on renal biopsy
  • Renal ultrasound may show normal-sized or enlarged echogenic kidneys
  • Severe renal insufficiency or anuria
  • Pulmonary hypoplasia
  • Skull ossification defects
  • Genetic testing may show mutations in genes of the renin-angiotensin system (REN, AGT, ACE, AGTR1)
Renal Cystic Dysplasia

Diagnostic History:

  • Often detected on prenatal ultrasound
  • May be unilateral or bilateral
  • Variable clinical presentation depending on severity
  • Possible association with other urinary tract anomalies

Specific Findings:

  • Renal ultrasound showing cystic kidneys with loss of corticomedullary differentiation
  • Variable renal function, depending on severity and bilaterality
  • May be part of a syndrome (e.g., Meckel-Gruber, Bardet-Biedl)
  • Histology showing disorganized renal tissue with cysts and primitive ducts
  • Possible associated urinary tract anomalies (e.g., vesicoureteral reflux, obstruction)
Renal Hypodysplasia

Diagnostic History:

  • May be detected on prenatal ultrasound or incidentally in childhood
  • Often asymptomatic initially
  • Possible urinary tract infections or hypertension

Specific Findings:

  • Small kidney(s) on ultrasound or other imaging
  • Reduced number of nephrons
  • Variable renal function, often progressive decline
  • May be associated with other urinary tract anomalies
  • Genetic testing may reveal mutations in genes such as PAX2, HNF1B, or SALL1
Renal Agenesis

Diagnostic History:

  • Unilateral cases often asymptomatic and discovered incidentally
  • Bilateral cases incompatible with life, severe oligohydramnios prenatally
  • May be part of a syndrome (e.g., VACTERL association)

Specific Findings:

  • Absence of kidney on ultrasound or other imaging
  • In unilateral cases, compensatory hypertrophy of the contralateral kidney
  • Nuclear scan (DMSA) confirming absence of functioning renal tissue
  • In bilateral cases, Potter sequence (facial dysmorphism, limb deformities, pulmonary hypoplasia)
  • May be associated with genital anomalies
Horseshoe Kidney

Diagnostic History:

  • Often asymptomatic and discovered incidentally
  • Possible increased risk of urinary tract infections or kidney stones
  • May be associated with other congenital anomalies or syndromes

Specific Findings:

  • Fusion of lower poles of kidneys on imaging (ultrasound, CT, or MRI)
  • Abnormal rotation and position of kidneys
  • Usually normal renal function
  • Possible associated ureteropelvic junction obstruction
  • May be associated with other anomalies in syndromes like Turner syndrome or trisomy 18
Multicystic Dysplastic Kidney (MCDK)

Diagnostic History:

  • Usually detected on prenatal ultrasound
  • Typically unilateral
  • Often asymptomatic
  • May be associated with contralateral urinary tract anomalies

Specific Findings:

  • Multiple non-communicating cysts of varying sizes on ultrasound
  • Absence of normal renal parenchyma in affected kidney
  • No function in affected kidney on nuclear scan (DMSA)
  • Normal renal function if unilateral and contralateral kidney is normal
  • Possible involution of affected kidney over time
  • Screening for associated anomalies in contralateral kidney or urinary tract
Renal Ectopia

Diagnostic History:

  • Often asymptomatic and discovered incidentally
  • Possible increased risk of urinary tract infections or stones
  • May present with abdominal or pelvic mass

Specific Findings:

  • Kidney located in abnormal position on imaging (ultrasound, CT, or MRI)
  • Common locations: pelvic, iliac, thoracic, or crossed ectopia
  • Usually normal renal function
  • Possible associated vesicoureteral reflux or obstruction
  • May be associated with other genitourinary anomalies
Ureteropelvic Junction (UPJ) Obstruction

Diagnostic History:

  • Often detected on prenatal ultrasound
  • May present with flank pain, urinary tract infections, or hematuria
  • Intermittent abdominal or flank pain that may worsen with fluid intake

Specific Findings:

  • Hydronephrosis on ultrasound, often with normal-appearing ureter
  • Delayed drainage on diuretic renogram
  • Normal or reduced differential renal function on nuclear scan
  • Possible enlarged kidney on physical examination
  • Urinalysis may be normal or show signs of infection
  • Voiding cystourethrogram (VCUG) typically normal
Prune Belly Syndrome

Diagnostic History:

  • Classic triad: deficient abdominal muscles, urinary tract abnormalities, and bilateral cryptorchidism
  • May be detected prenatally with oligohydramnios and enlarged bladder
  • Wrinkled, prune-like appearance of abdominal wall
  • Recurrent urinary tract infections

Specific Findings:

  • Absence or hypoplasia of abdominal muscles
  • Bilateral cryptorchidism in males
  • Megacystis (enlarged bladder) with poor emptying
  • Bilateral hydroureteronephrosis
  • Varying degrees of renal dysplasia
  • Possible pulmonary hypoplasia in severe cases
  • Variable renal function, often progressive decline
Renal Tubular Acidosis - Type 4 (Hyperkalemic RTA)

Diagnostic History:

  • Often associated with obstructive uropathy or congenital adrenal hyperplasia
  • Failure to thrive in infants
  • Muscle weakness
  • Possible cardiac arrhythmias due to hyperkalemia

Specific Findings:

  • Hyperkalemia
  • Metabolic acidosis with normal anion gap
  • Low urine ammonium excretion
  • Suppressed renin activity
  • Low or normal aldosterone levels
  • Possible associated urinary tract anomalies on imaging
  • Genetic testing may reveal mutations in genes involved in aldosterone signaling (e.g., NR3C2, SCNN1A, SCNN1B, SCNN1G)
Pseudohypoaldosteronism Type 1 (PHA1)

Diagnostic History:

  • Salt-wasting crisis in neonatal period
  • Failure to thrive
  • Recurrent dehydration
  • Vomiting and diarrhea

Specific Findings:

  • Hyperkalemia
  • Hyponatremia
  • Metabolic acidosis
  • Very high plasma renin activity and aldosterone levels
  • Normal 17-hydroxyprogesterone (to differentiate from congenital adrenal hyperplasia)
  • Genetic testing may show mutations in NR3C2 gene (autosomal dominant form) or SCNN1A, SCNN1B, SCNN1G genes (autosomal recessive form)
Liddle Syndrome

Diagnostic History:

  • Early-onset hypertension
  • Family history of early-onset hypertension
  • Possible muscle weakness or periodic paralysis

Specific Findings:

  • Hypertension
  • Hypokalemia
  • Metabolic alkalosis
  • Low plasma renin activity
  • Low aldosterone levels
  • Normal or elevated urinary potassium excretion despite hypokalemia
  • Genetic testing showing mutations in SCNN1B or SCNN1G genes
Nephrogenic Diabetes Insipidus

Diagnostic History:

  • Polyuria and polydipsia from early infancy
  • Recurrent episodes of dehydration
  • Failure to thrive
  • Irritability
  • Possible developmental delay if recurrent dehydration is severe

Specific Findings:

  • Hypernatremia
  • Low urine osmolality (typically <300 mOsm/kg) with high serum osmolality
  • Failure to concentrate urine after water deprivation test
  • No response to desmopressin administration
  • Normal or elevated vasopressin levels
  • Genetic testing may show mutations in AVPR2 (X-linked) or AQP2 (autosomal) genes
Autosomal Dominant Polycystic Kidney Disease (ADPKD)

Diagnostic History:

  • Often asymptomatic in childhood
  • Family history of ADPKD
  • May present with hypertension, hematuria, or flank pain
  • Possible associated liver cysts or intracranial aneurysms

Specific Findings:

  • Multiple bilateral renal cysts on ultrasound or MRI
  • Age-dependent diagnostic criteria for imaging
  • Normal renal function in childhood, usually declining in adulthood
  • Hypertension
  • Possible proteinuria
  • Genetic testing showing mutations in PKD1 or PKD2 genes
Tuberous Sclerosis Complex (TSC)

Diagnostic History:

  • Seizures, often starting in infancy
  • Developmental delay or intellectual disability
  • Skin findings (ash-leaf spots, facial angiofibromas)
  • Possible cardiac rhabdomyomas

Specific Findings:

  • Renal angiomyolipomas
  • Renal cysts
  • Possible renal cell carcinoma in older patients
  • Brain lesions (cortical tubers, subependymal nodules)
  • Retinal hamartomas
  • Genetic testing showing mutations in TSC1 or TSC2 genes
Von Hippel-Lindau Disease

Diagnostic History:

  • Family history of VHL
  • Often asymptomatic in early childhood
  • Visual disturbances if retinal hemangioblastomas present
  • Headaches or neurological symptoms if CNS hemangioblastomas present

Specific Findings:

  • Renal cysts
  • Renal cell carcinoma (usually presenting in young adulthood)
  • Retinal hemangioblastomas
  • CNS hemangioblastomas
  • Pheochromocytoma
  • Pancreatic cysts or neuroendocrine tumors
  • Genetic testing showing mutations in VHL gene
Renal Coloboma Syndrome

Diagnostic History:

  • Visual impairment often noted in infancy
  • Variable renal involvement, from asymptomatic to renal insufficiency
  • Possible family history of kidney or eye abnormalities

Specific Findings:

  • Optic nerve colobomas
  • Renal hypodysplasia
  • Vesicoureteral reflux in some cases
  • Variable proteinuria and renal function
  • Possible high-frequency hearing loss
  • Genetic testing showing mutations in PAX2 gene
Congenital Nephrotic Syndrome (Non-Finnish Type)

Diagnostic History:

  • Proteinuria and edema in first 3 months of life
  • Failure to thrive
  • Recurrent infections

Specific Findings:

  • Nephrotic range proteinuria
  • Hypoalbuminemia
  • Hyperlipidemia
  • Edema
  • Normal-sized kidneys on ultrasound
  • Genetic testing may show mutations in NPHS2, WT1, or LAMB2 genes
Focal Segmental Glomerulosclerosis (FSGS)

Diagnostic History:

  • Proteinuria, often nephrotic range
  • Edema
  • Hypertension
  • May be primary or secondary to various causes

Specific Findings:

  • Nephrotic range proteinuria
  • Hypoalbuminemia
  • Hyperlipidemia
  • Microscopic hematuria in some cases
  • Renal biopsy showing focal and segmental glomerular sclerosis
  • Possible genetic causes (mutations in NPHS2, TRPC6, INF2, etc.)
  • Progressive renal insufficiency if untreated
    • Membranous Nephropathy

    Diagnostic History:

    • Uncommon in children
    • Edema
    • Possible history of infections (e.g., hepatitis B) or autoimmune diseases

    Specific Findings:

    • Nephrotic range proteinuria
    • Hypoalbuminemia
    • Hyperlipidemia
    • Normal or mildly reduced renal function initially
    • Positive anti-PLA2R antibodies in some cases
    • Renal biopsy showing thickened glomerular basement membrane and subepithelial immune deposits
    Membranoproliferative Glomerulonephritis (MPGN)

    Diagnostic History:

    • Variable presentation from asymptomatic proteinuria to nephrotic syndrome
    • Possible history of infections or autoimmune diseases
    • Hematuria

    Specific Findings:

    • Proteinuria (variable range)
    • Hematuria (microscopic or gross)
    • Hypocomplementemia in many cases
    • Renal biopsy showing mesangial hypercellularity and thickening of glomerular basement membrane
    • Immunofluorescence and electron microscopy findings depend on type (immune complex-mediated or C3 glomerulopathy)
    • Evaluation for underlying causes (infections, autoimmune diseases, complement disorders)
    IgA Vasculitis (Henoch-Schönlein Purpura) Nephritis

    Diagnostic History:

    • Often preceded by upper respiratory infection
    • Palpable purpuric rash, typically on lower extremities and buttocks
    • Abdominal pain, possible gastrointestinal bleeding
    • Arthralgia or arthritis

    Specific Findings:

    • Hematuria (microscopic or gross)
    • Proteinuria (variable range)
    • Normal or mildly reduced renal function
    • Normal complement levels
    • Elevated IgA levels in some cases
    • Renal biopsy (if performed) showing mesangial IgA deposits
    • Skin biopsy showing leukocytoclastic vasculitis with IgA deposits
    Lupus Nephritis

    Diagnostic History:

    • May be initial presentation of systemic lupus erythematosus (SLE) in children
    • Fatigue, fever, weight loss
    • Skin rashes (malar rash, discoid rash)
    • Joint pain or arthritis
    • Possible neurological symptoms

    Specific Findings:

    • Proteinuria (variable range)
    • Hematuria
    • Hypertension
    • Positive ANA, anti-dsDNA antibodies
    • Low complement levels (C3 and C4)
    • Renal biopsy showing various patterns (classified by ISN/RPS classification)
    • Other features of SLE (cytopenias, serositis, neurological involvement)
    ANCA-associated Vasculitis

    Diagnostic History:

    • Fatigue, fever, weight loss
    • Possible respiratory symptoms (cough, hemoptysis)
    • Skin lesions
    • Joint pain
    • Sinusitis or epistaxis

    Specific Findings:

    • Hematuria (often with red blood cell casts)
    • Proteinuria (usually non-nephrotic range)
    • Elevated creatinine
    • Positive ANCA (PR3-ANCA or MPO-ANCA)
    • Elevated inflammatory markers (ESR, CRP)
    • Renal biopsy showing pauci-immune crescentic glomerulonephritis
    • Chest X-ray or CT may show pulmonary nodules or infiltrates
    • Possible multisystem involvement (pulmonary, ENT, neurological, etc.)
    Anti-GBM Disease (Goodpasture's Syndrome)

    Diagnostic History:

    • Rapid onset of symptoms
    • Hemoptysis or other pulmonary symptoms
    • Possible recent viral infection or hydrocarbon exposure

    Specific Findings:

    • Rapidly progressive glomerulonephritis
    • Hematuria with red blood cell casts
    • Proteinuria
    • Positive anti-GBM antibodies
    • Renal biopsy showing linear IgG deposits along glomerular basement membrane
    • Pulmonary hemorrhage on chest X-ray or CT in some cases
    • Iron deficiency anemia if significant pulmonary hemorrhage
    C3 Glomerulopathy

    Diagnostic History:

    • Variable presentation from asymptomatic proteinuria to nephritic syndrome
    • Possible family history of kidney disease

    Specific Findings:

    • Proteinuria (variable range)
    • Hematuria (microscopic or gross)
    • Low serum C3 levels with normal C4
    • Renal biopsy showing C3 deposits with minimal or no immunoglobulin deposition
    • Evaluation of complement regulatory proteins and genetic testing for complement pathway mutations
    • Possible presence of C3 nephritic factor
    Infantile Hyperoxaluria

    Diagnostic History:

    • Failure to thrive in infancy
    • Recurrent urinary tract infections
    • Nephrocalcinosis or kidney stones

    Specific Findings:

    • Elevated urinary oxalate excretion
    • Nephrocalcinosis on renal ultrasound
    • Elevated plasma oxalate levels
    • Progressive renal insufficiency
    • Genetic testing showing mutations in AGXT, GRHPR, or HOGA1 genes
    • Possible systemic oxalosis (retinal, cardiac, bone involvement) in advanced cases
    Renal Vein Thrombosis

    Diagnostic History:

    • Often occurs in neonates, especially in setting of dehydration or sepsis
    • Hematuria
    • Flank mass or enlarged kidney
    • Possible thrombocytopenia

    Specific Findings:

    • Gross or microscopic hematuria
    • Proteinuria
    • Enlarged kidney on ultrasound with loss of corticomedullary differentiation
    • Doppler ultrasound showing absent or reversed flow in renal vein
    • CT or MR angiography confirming renal vein thrombosis
    • Possible associated hypercoagulable state (factor V Leiden, protein C or S deficiency)
    Renal Artery Stenosis

    Diagnostic History:

    • Hypertension, often severe or resistant to treatment
    • Possible systemic symptoms if associated with vasculitis (e.g., Takayasu arteritis)

    Specific Findings:

    • Hypertension
    • Possible renal insufficiency
    • Abdominal bruit on physical examination
    • Doppler ultrasound showing increased velocity in renal artery
    • CT or MR angiography demonstrating renal artery stenosis
    • Possible asymmetry in kidney sizes
    • Elevated plasma renin activity
    Renal Cortical Necrosis

    Diagnostic History:

    • Often occurs in setting of severe systemic illness or obstetric complications
    • Sudden onset of oliguria or anuria
    • Associated with shock, sepsis, or severe dehydration

    Specific Findings:

    • Acute kidney injury with elevated creatinine
    • Oliguria or anuria
    • Hematuria and proteinuria
    • CT showing lack of renal cortical enhancement
    • Renal ultrasound may show enlarged, echogenic kidneys
    • Renal biopsy (if performed) showing cortical necrosis
    Wilms Tumor (Nephroblastoma)

    Diagnostic History:

    • Asymptomatic abdominal mass noticed by parent or on routine examination
    • Possible abdominal pain, hematuria, or hypertension
    • May be associated with certain syndromes (e.g., WAGR, Beckwith-Wiedemann)

    Specific Findings:

    • Abdominal mass on physical examination
    • Renal mass on ultrasound or CT imaging
    • Possible hematuria
    • Hypertension in some cases
    • Elevated LDH in some cases
    • CT chest to evaluate for metastases
    • Genetic testing for WT1 mutations in syndromic cases
    Renal Cell Carcinoma

    Diagnostic History:

    • Rare in children, but may occur in certain genetic syndromes
    • Often asymptomatic, discovered incidentally
    • Possible hematuria, abdominal pain, or palpable mass

    Specific Findings:

    • Renal mass on imaging (ultrasound, CT, or MRI)
    • Hematuria (microscopic or gross)
    • Possible paraneoplastic syndromes (e.g., polycythemia, hypercalcemia)
    • CT or MRI for staging
    • Genetic testing in cases of suspected hereditary RCC syndromes (e.g., VHL, hereditary leiomyomatosis and RCC)
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