Which of the following statements is FALSE about Congenital nephrotic syndrome caused by Nephrin protein mutation
Correct Answer: Should manifest within 1st 2 weeks of life
Description: Congenital nephrotic syndrome: Defined as nephrotic syndrome manifesting at bih or within 1st 3 months of life The Finnish type of congenital nephrotic syndrome is caused by autosomal recessive mutations in NPHS1 or NPHS2 gene, which encodes nephrin and podocin, critical components of the slit diaphragm Affected infants most commonly present at bih with edema caused by massive proteinuria. Gene Chromosome Protein Disease Inheritance NPHS-1 19 Nephrin Finnish type of nephrotic Syn. AR NPHS-2 1 Podocin Steroid resistant N.S AR ACTN4 19 a Actinin 4 Congenital FSGS AD WT-1 11 WT Protein Denys Drash Syn. AD LMX1B 9 LMX1B Protein Nail patella syndrome AD LAMB2 3 b2 Laminin Pierson syndrome AR
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