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Childhood Nephrotic Syndrome

Childhood Nephrotic Syndrome. By Brent Lee Lechner, D.O. MAJ, MC, USA. Case #1. 4 month old child Symptoms: Irritability Intermittent puffy eyes Poor Appetite Normal, uncomplicated pregnancy, labor and delivery. Case #1. Physical Exam : Length: 60 cm Weight: 8.0 kg BP: 90/60

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Childhood Nephrotic Syndrome

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  1. Childhood Nephrotic Syndrome By Brent Lee Lechner, D.O. MAJ, MC, USA

  2. Case #1 • 4 month old child • Symptoms: • Irritability • Intermittent puffy eyes • Poor Appetite • Normal, uncomplicated pregnancy, labor and delivery

  3. Case #1 • Physical Exam: • Length: 60 cm • Weight: 8.0 kg • BP: 90/60 • HEENT: Negative • Chest: Clear; RSR without murmur • ABD: liver palpable, kidneys not felt • Ext: 2+ pedal and periorbital edema

  4. Case # 1 Urine • Urinanalysis: Microscopy: • pH: 6.0 2-3 RBCs/hpf • SG: 1.030 20+ Granular Casts • Blood (-) • Glucose (-) • Ketones (-) • Protein (3+) • LE(-) • Nitrite (-)

  5. Case #1: Questions • What additional historic information would be helpful? • Congenital infections or maternal infection history including: VDRL screen, STD, etc • Large Placenta • Birth Weight and Prematurity • Elevated Alpha Fetal Protein during pregnancy • Newborn screen: Elevated TSH, VDRL, etc

  6. Case #1: Questions • What additional laboratory data? • Serum Total Protein and Albumin • Serum Cholesterol • Screen for congenital infections: VDRL, RPR, CMV serologies, toxoplasmosis, hepatitis and HIV screen • Third world Countries: Peripheral Smear for malaria • Complete Thyroid Studies • Urine Protein/Creatinine Ratio • SLE serologies: C3, C4, ANA – very rare

  7. Case 1: Questions • What is the most likely diagnosis? Infantile Nephrotic Syndrome • What are the causes?

  8. Congenital Nephrotic SyndromeDifferential Diagnosis • Genetic • Infections • Idiopathic

  9. Genetic Causes • Finnish Type • NPHS 1 mutation (Nephrin) • Autosomal recessive disease • Generalized edema, abdominal distention, ascites, umbilical hernias and widened cranial sutures and fontanelles • Hypotonia • TSH and T4 • NPHS 2 mutation (Podocin) • Associated with focal segmental glomerulosclerosis (FSGS) • Usually presents at older age

  10. Genetic Causes • Denys-Drash Syndrome (WT1 gene mutation) • Male pseudohermaphroditism (XY) • Ambiguous external or internal genitalia • Wilm’s Tumor Association • Renal Failure by age 4-5 years • Galloway-Mowat Syndrome (autosomal recessive) • Anomalies (CNS and brain, ocular, limb, cardiac and diaphragmatic defects along with dysmorphic facies)

  11. Infections • Congenital Syphilis (GN + interstitial nephritis) • Hematuria often present • Penicillin: Curative • Toxoplasmosis • Congenital rubella (membranous GN) • Cytomegalovirus (CMV) • HIV • Hepatitis B (membranous GN)

  12. Idiopathic • Diffuse Mesangial Sclerosis (DMS) • Older infant (3-4 months out) • Membranous nephropathy • Infantile Systemic Lupus Erythematous (SLE) • Diffuse proliferative GN (6 weeks-6 months) • Low complement and ANA (+) • Very Rare

  13. Case #2 • 30 month old child • Symptoms: • Swollen Eyes ten days after URI • Previously well and without problems • Irritability, poor appetite and protuberant abdomen

  14. Case #2 • Physical Exam • Height: 90 cm • Weight: 18 kg • BP 105/70 • HEENT: negative • Chest: Clear; RSR without murmur • Abd: soft, liver palpable 2 cm below right costal margin • Extremities: 2+/4 pedal and pretibial edema

  15. Case #2 Urine • UrinanalysisMicroscopy • SG: 1.030 multiple granular casts • pH: 6.0 • Blood (-) • Glucose(-) • Ketones(-) • LE (-) • Nitrites (-) • Protein (4+)

  16. Case #2: Questions • What additional laboratory data would be helpful ? • Serum Total Protein and Albumin • Urine Protein to Creatinine ratio • Serum Cholestrol

  17. Case #2: Questions • What is the most probable diagnosis? • Childhood Nephrotic Syndrome • Minimal change lesion • What findings would make minimal change nephrotic syndrome less likely? • Age: less than 1 year old or teenager • Hematuria, especially rbc casts • Hypertension • Azotemia, elevated serum creatinine

  18. Case #2: Questions • What is required to establish diagnosis ? • Always • Proteinuria • Hypoalbumemia • Frequently • Edema • Hypercholestrolemia

  19. Case #2: Questions • How would you treat this patient? • Low sodium diet • Prednisone 2 mg/kg qd (max 60 mg/d) • Daily urine dipstick • When trace or negative for 10 days then wean steroids over 6 week course • Albumin and Lasix treatment: • If hyponatremia, severe edema and scrotal or labial edema (patient cannot ambulate), or respiratory distress (pleural effusion)

  20. Case #2: Questions • Is this likely to be a relapsing disease and, if so, when would the first relapse be likely? 100 patients 95 Steroid Responsive5 Early Steroid resistant • 50 Steroid Responsive 30 Steroid Dependent One episode No reslapses 5 Late Steroid Resistant

  21. Case #2: Questions • For patients with a complicated clinical course (multiple relapses or steroid non-responsive, or steroid toxicity), what is the alternate therapies? • Cyclophosphamide (2 mg/kg) for 12 weeks • Cyclosporin A (6 mg/kg/d) for 12 weeks

  22. Case #2: Questions • What is the long-term prognosis? • Very favorable prognosis • 90% full remission by age 21 years old

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