Congenital nephrotic syndrome

Pediatric Nephrology

Volumn 16, Issue 2, 2001, Pages 185-189

  Koziell, A ^a   Iyer, V K ^b   Moghul, N E ^b   Ramani, P ^b   Taylor, C M ^b  

^a ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

^b BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

Author keywords

Congenital nephrotic syndrome; Diffuse mesangial sclerosis; Genetic counselling; NPHS1 gene; WT1 gene

Indexed keywords

ACIDOSIS; ARTICLE; CASE REPORT; EDEMA; FEMALE; HUMAN; HUMAN TISSUE; HYPONATREMIA; INFANT; MESANGIUM CELL; NEPHROTIC SYNDROME; OLIGOHYDRAMNIOS; PRIORITY JOURNAL; PROTEINURIA;

EID: 0035146048     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004670000445     Document Type: Article

References (12)

1. Positionally cloned gene for a novel glomerular protein - Nephrin - Is mutated in congenital nephrotic syndrome
2. Structure of the gene for congenital nephrotic syndrome of the Finnish type (NPHS1) and characterization of mutations
3. Clinicopathologic review of twelve children with nephropathy, Wilm's tumour, and genital abnormalities
4. Clinical overview of WT1 gene mutations
5. Donor splice site mutations are responsible for Frasier syndrome
6. Do intronic mutations affecting splicing of WT1 exon 9 cause Frasier syndrome?
7. Frasier syndrome is caused by defective alternative splicing leading to an altered ratio of WT1 +/- KTS splice isoforms
8. Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database
9. Mutation of WT1 gene in a family with Denys-Drash and focal segmental sclerosis
10. The same mutation affecting the splicing of WT1 gene is present on Frasier syndrome patients with or without Wilms' tumor
11. Nephrin is specifically located at the slit diaphragm of glomerular podocytes
12. Nephrotic syndrome in the first year of life