congenital Nephrosis

A congenital nephrotic syndrome; patients present with PROTEINURIA; HYPOALBUMINEMIA; HYPERLIPIDEMIA, and EDEMA. Biopsies show nonspecific histologic changes such as MINIMAL CHANGE GLOMERULOPATHY; FOCAL SEGMENTAL GLOMERULOSCLEROSIS (FSGS), and diffuse mesangial proliferation. Nephrotic syndrome type 1 (OMIM: 256300) presents with prenatal onset of massive proteinuria followed by severe steroid-resistant nephrotic syndrome at birth with rapid progression to CHRONIC KIDNEY FAILURE. Germline mutations have been identified in the NPHS1 gene for type 1; NPHS2 gene for type 2 (OMIM: 600995); and the PLCE1 gene for type 3 (OMIM: 610725).

Also Known As:

Nephrosis, congenital; Congenital nephrotic syndrome 1; Congenital nephrotic syndrome, Finnish type; Finnish congenital nephrosis; Nephrosis 1, congenital, Finnish type; Nephrotic Syndrome, Early-Onset, Type 3; Nephrotic Syndrome, Idiopathic; Nephrotic Syndrome, Type 1; Nephrotic Syndrome, Type 2; Nephrotic Syndrome, Type 3; Nphs3

Urogenital Diseases: 129
- Urologic Diseases: 817
  - Kidney Diseases: 12764
    - Nephrosis: 1813
      - Nephrotic Syndrome: 9946
        congenital Nephrosis: 54
- Female Urogenital Diseases and Pregnancy Complications
  - Female Urogenital Diseases
    - Urologic Diseases: 817
      - Kidney Diseases: 12764
        Nephrosis: 1813
        Nephrotic Syndrome: 9946
        congenital Nephrosis: 54
- Male Urogenital Diseases
  - Urologic Diseases: 817
    - Kidney Diseases: 12764
      - Nephrosis: 1813
        Nephrotic Syndrome: 9946
        congenital Nephrosis: 54

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