Nodular regenerative hyperplasia and severe portal hypertension in cystinosis.
Nodular regenerative hyperplasia and severe portal hypertension in cystinosis.
复制标题
胱氨酸病的结节性再生性增生和严重门脉高压。
DOI：
10.1016/j.cgh.2005.12.013
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发表时间：
2006
期刊：
影响因子：
--
通讯作者：
Gahl,WilliamA
中科院分区：
文献类型：
--
作者：
O'Brien,Kevin;Hussain,Nadeem;Warady,BradleyA;Kleiner,DavidE;Kleta,Robert;Bernardini,Isa;Heller,Theo;Gahl,WilliamA
Background & AimsCystinosis is a rare autosomal-recessive disorder characterized by the intralysosomal accumulation of cystine, which is responsible for widespread tissue destruction. Liver biopsy specimens of patients with cystinosis show cystine crystal formation in Kupffer cells. However, significant liver disease and portal hypertension is not a common complication of cystinosis. We report the case histories of 2 young men with poorly treated nephropathic cystinosis who developed noncirrhotic portal hypertension with evidence of nodular regenerative hyperplasia (NRH).MethodsLiver biopsy examinations, upper and lower endoscopy with biopsy examination, imaging studies, venous pressure measurements, and laboratory investigations were used to evaluate the causes of the liver disease and portal hypertension.ResultsHistologic examination of liver biopsy specimens from both patients showed changes characteristic of NRH with portal hypertension documented by measurement of pressure gradients. In addition, endoscopy in the first patient showed varices and portal hypertensive gastropathy.ConclusionsNRH was confirmed by histologic examination of the liver in both patients and is the likely cause of their portal hypertension. NRH may represent a rare, late complication of cystinosis, although the mechanism remains undefined.
