Neuhaus T J, Stallmach T, Leumann E, Altorfer J, Braegger C P
University Children's Hospital, Zürich, Switzerland.
Eur J Pediatr. 1997 Sep;156(9):723-6. doi: 10.1007/s004310050699.
We describe two siblings (female and male) with progressive tubulo-interstitial nephropathy and cholestatic liver disease. The main characteristics were progressive renal failure and elevated liver enzymes (AST, ALT and gamma-GT). Dialysis was started at the age of 1.9 and 6.5 years, respectively. Renal histology disclosed sclerosed glomeruli and atrophic tubules; the interstitium was fibrotic and infiltrated by lymphocytes. Endoscopic retrograde cholangiopancreatography revealed segmental irregularities and narrowing of the intrahepatic bile ducts, consistent with early primary sclerosing cholangitis. Liver histology showed enlarged portal triads, mild proliferation and inflammation of bile ducts, and fibrosis. At 5.9 years the girl underwent a successful renal transplantation whereas the boy is still on dialysis.
The association of progressive tubulointerstitial nephropathy and cholestatic liver disease, consistent with early primary sclerosing cholangitis, constitutes a distinct autosomal recessive entity.
我们描述了两名患有进行性肾小管间质性肾病和胆汁淤积性肝病的同胞（一女一男）。主要特征为进行性肾衰竭和肝酶（AST、ALT和γ-GT）升高。分别在1.9岁和6.5岁时开始透析。肾脏组织学检查显示肾小球硬化和肾小管萎缩；间质纤维化并伴有淋巴细胞浸润。内镜逆行胰胆管造影显示肝内胆管节段性不规则和狭窄，符合早期原发性硬化性胆管炎。肝脏组织学检查显示门三联增宽、胆管轻度增生和炎症以及纤维化。5.9岁时，女孩接受了成功的肾移植，而男孩仍在透析。
进行性肾小管间质性肾病与胆汁淤积性肝病相关，符合早期原发性硬化性胆管炎，构成一种独特的常染色体隐性遗传病。
