CONGENITAL NEPHROTIC SYNDROME

CONGENITAL NEPHROTIC SYNDROME

  • It is a rare kidney disease which manifests in infants during the first 3 months of life and it characterized by high level of proteins in urine



- NPHS1 gene - Nephrin decreased zipper mechanism block defect
- NPHS2 gene - Podocin decreased (bad prognosis)

CLINICAL FEATURES:

  • Non immune hydrops fetalis
  • Anasara
  • Foamy urine



WORKUP:

  • 24 hrs urinary protein = increased = >40mg/m2 BSA
  • Serum albumin - decreased


TREATMENT:

  • Daily albumin infusion
  • Steroids


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