Nephronophthisis and ulcerative colitis in siblings : a new association

Nephronophthisis (NPH) is a chronic tubulointerstitial nephritis leading to terminal renal insufficiency. The disease is heterogeneous, but usually the inheritance pattern is autosomal recessive. In 80% of cases, the disease is caused by a homozygous deletion in NPHP1 gene in chromosome 2q13. Ulcera...

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Bibliographic Details
Published in:Pediatric nephrology (Berlin, West) West), 2001-06, Vol.16 (6), p.507-509
Main Authors: ALA-MELLO, Sirpa, KÄÄRIÄINEN, Helena, KOSKIMIES, Olli
Format: Article
Language:English
Subjects:
Adult
Anti-Inflammatory Agents - therapeutic use
Anti-Inflammatory Agents, Non-Steroidal - therapeutic use
Azathioprine - therapeutic use
Biological and medical sciences
Chronic Disease
Colitis, Ulcerative - drug therapy
Colitis, Ulcerative - genetics
Drug Therapy, Combination
Female
Humans
Immunosuppressive Agents - therapeutic use
Kidney Transplantation
Kidneys
Male
Medical sciences
Nephritis, Interstitial - genetics
Nephritis, Interstitial - therapy
Nephrology. Urinary tract diseases
Prednisolone - therapeutic use
Sulfasalazine - therapeutic use
Urinary system involvement in other diseases. Miscellaneous
Citations: Items that cite this one
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Summary:Nephronophthisis (NPH) is a chronic tubulointerstitial nephritis leading to terminal renal insufficiency. The disease is heterogeneous, but usually the inheritance pattern is autosomal recessive. In 80% of cases, the disease is caused by a homozygous deletion in NPHP1 gene in chromosome 2q13. Ulcerative colitis is an inflammatory bowel disease with chronic diarrhea, rectal bleeding and characteristic histological findings. Its etiology is suggested to be multifactorial, consisting of genetic susceptibility and unknown exogenous factors. We present two siblings with NPH and ulcerative colitis. As NPH in this family is not linked to 2q13, this association may represent a new, syndromic form of NPH.
ISSN:0931-041X
1432-198X
DOI:10.1007/s004670100597