Nephronophthisis - üremle medullary eystic disease (UMCD) complex
Journal Name:
- Selçuk Tıp Dergisi
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| Author Name | University of Author |
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Abstract (2. Language):
This is a group of progressive renaldisorders that usuaiy have their onset in chiidhood. The common charactehs-tic is the peresence of a variable number of eysts in the medulla associated with significant cortical fubular atro-phy and interstitial fibrosis, Although the presence of medullary eysts is important, the corticaltubulointerstitial dam-age is the causeof the eventual renal incufficiency. İt has four variants: 1- Sporodic, nonfamilial (% 20); 2- Familial juvenile nephronophytisis (% 50), İnherited asa recessive disease; 3- Renal - retinal dysplasia (% 15), recessively inherited and associated with retinitis pigmentosa; and 4-Adult onset medullary eystic disease, dominantly inherited (%15). The case had shovvn the view of sporadic nonfamilial variant of UMCD and was presented because of the rarity in literatüre it.
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Abstract (Original Language):
Böbrek hastalıkları İle karakterlidir ve sıklıkla çocukluk çağında ortaya çıkarlar. Başlıca bulguları medullada değişen sayılarda kistler ile birlikte belirgin kortikal tubuler atrofi ve interstisyel fibrozistir. Medüller kistler önemli olmakla birlikte, kortikal tubulointerstisyel hasar böbrek yetmezliğine neden olur. Dört tipi vardır: 1 - Sporadik, non-familial (% 20); 2- Familial juvenil nefronofitizis (% 50), resesif geçişlidir; 3- Renal retinal displazi (% 15), resesif geçişlidir ve retintis pigmentoza ile birlfktedir; ve 4- Erişkinde ortaya çıkan medüller kistik hastalık, dominant geçişlidir (% 15) (1). Olgu sporadik, nonfamilyal tip ile uyumlu olup literatürde az görülmesi nedeniyle sunuldu.
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