Congenital Nephrotic Syndrome
Definition
The congenital nephrotic syndrome (Finnish type) is a recessive inherited kidney disease, which affects children with severe proteinuria and later end-stage renal disease (Caridi et al, 2010).
Epidemiology:
0,5–1:100000Etiology:
The congenital nephrotic syndrome is caused by mutation of the NPHS1 gene (see nephronophthisis). At the time of birth, a greatly enlarged placenta is present, the children suffer from a severe loss of protein through proteinuria. Later, end-stage renal disease develops due to glomerulosclerosis. Dilated proximal tubules led to the old name "microcystic renal disease".
Diagnosis:
Greatly increased AFP in the amniotic fluid. Placental weight is greatly increased. Genetic diagnosis is possible. Kidney biopsy.Treatment of congenital nephrotic syndrome:
Familiar forms of the nephrotic syndrome are resistant to corticosteroids and require later on dialysis and/or renal transplantation.
| nephronophthisis | Index | Kidney diseases |
Index: 1–9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
You did not find what you are looking for?
Search this site with Google:
References
- Caridi, G.; Trivelli, A.; Sanna-Cherchi, S.; Perfumo, F. & Ghiggeri, G. M.
- Familial forms of nephrotic syndrome.
Pediatr Nephrol, 2010, 25, 241-252
- Urology
- Basics:
- Anatomy
- Signs and Symptoms
- Examinations
- Surgical Management
- Pharmacology
- Diseases:
- Kidneys
- Ureters
- Bladder
- Prostate
- Urethra
- Penis
- Testes
- Adrenal Glands
- Common Diseases
- Urologic Surgery
- Miscellaneous:
- Index
- Abbreviations
- News
- Book Order
- Recommendations
- Urology Test
- Links
- Disclaimer
- Search
Deutsche Version: Kongenitales nephrotisches Syndrom
Last update
Dr. med. Dirk Manski
man...@urologielehrbuch.de