" /> Nephrotic syndrome, type 1 - CISMeF





Preferred Label : Nephrotic syndrome, type 1;

Symbol : NPHS1;

CISMeF acronym : CNF; NPHS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Nephrotic syndrome, congenital; Finnish congenital nephrosis; CNF;

Description : The nephrotic syndrome is characterized clinically by proteinuria, hypoalbuminemia, hyperlipidemia, and edema. Kidney biopsies show nonspecific histologic changes such as minimal change, focal segmental glomerulosclerosis (FSGS), and diffuse mesangial proliferation. Approximately 20% of affected individuals have an inherited steroid-resistant form and progress to end-stage renal failure (summary by Fuchshuber et al., 1996). Nephrotic syndrome type 1 (NPHS1) is characterized by prenatal onset of massive proteinuria followed by severe steroid-resistant nephrotic syndrome apparent at birth with rapid progression to end-stage renal failure (Kestila et al., 1998). Because of confusion in the literature regarding use of the terms 'nephrotic syndrome' and 'focal segmental glomerulosclerosis' (see;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the nephrin gene (NPHS1, 602716.0001);

Laboratory abnormalities : Hyperlipidemia; Hypoalbuminemia;

Prefixed ID : #256300;

Détails


Vous pouvez consulter :


Nous contacter.
28/07/2025


[Accueil] [Haut de page]

© CHU de Rouen. Toute utilisation partielle ou totale de ce document doit mentionner la source.