Nodular regenerative hyperplasia and severe portal hypertension in cystinosis

Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association
Kevin O'BrienWilliam A Gahl

Abstract

Cystinosis 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). Liver 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. Histologic 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. NRH 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 c...Continue Reading

References

May 1, 1979·Neuropädiatrie·J H EhrichJ Brodehl
Jul 1, 1976·The Journal of Clinical Investigation·J G ThoeneJ A Schneider
Dec 1, 1992·Biochemical Medicine and Metabolic Biology·W A GahlM C Dalakas
Aug 1, 1991·Journal of Clinical Gastroenterology·B L BakerA M Di Bisceglie
May 1, 1990·Archives of Ophthalmology·M I Kaiser-KupferW A Gahl
Aug 30, 1990·The New England Journal of Medicine·B C SoniesW A Gahl
May 1, 1989·Archives of Neurology·J K FinkW A Gahl
Jul 1, 1987·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·M BroyerM C Gubler
Dec 1, 1988·The New England Journal of Medicine·W A GahlH T Hutchison
Oct 1, 1986·The Journal of Pediatrics·W A GahlR Chesney
Apr 16, 1987·The New England Journal of Medicine·W A GahlJ A Schneider
Mar 26, 1987·The New England Journal of Medicine·M I Kaiser-KupferW A Gahl
Dec 1, 1983·The Journal of Pediatrics·W A GahlJ Schneider
Mar 1, 1981·Digestive Diseases and Sciences·J E Bredfeldt, A L Havey
Nov 1, 1995·The Journal of Clinical Endocrinology and Metabolism·V E KimonisW A Gahl
Feb 1, 1994·Annals of Neurology·L R CharnasW A Gahl
Oct 1, 1993·Annals of Internal Medicine·C L ChikW A Gahl
Nov 10, 1993·JAMA : the Journal of the American Medical Association·D S TheodoropoulosW A Gahl
Apr 22, 1993·The New England Journal of Medicine·T C MarkelloW A Gahl
Aug 1, 1997·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·K Shimamatsu, I R Wanless
Oct 30, 1998·American Journal of Human Genetics·V ShotelersukW A Gahl
Sep 26, 2000·Molecular Genetics and Metabolism·W A GahlM I Kaiser-Kupfer
Nov 16, 2001·Molecular Genetics and Metabolism·R KletaW A Gahl
Jul 12, 2002·The New England Journal of Medicine·William A GahlJerry A Schneider
Apr 1, 2004·American Journal of Hematology·Khalid A Al-MukhaizeemAverell H Sherker
Aug 19, 2004·The American Journal of Surgical Pathology·Stephen A GellerStephan R Targan
Nov 3, 2004·The Journal of Pediatrics·Cigdem F DoguluWilliam A Gahl
Jul 29, 2005·Digestive Diseases and Sciences·Simona RossiVictor J Navarro

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Citations

Nov 17, 2007·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Galina Nesterova, William Gahl
Aug 21, 2012·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Galina Nesterova, William A Gahl
May 10, 2008·Journal of Gastroenterology and Hepatology·Tom CornelisDavid Cassiman
Apr 8, 2011·World Journal of Gastroenterology : WJG·Marek HartlebPiotr Milkiewicz
Sep 9, 2011·Kidney International·Albane Brodin-SartoriusAude Servais
Jul 23, 2008·Alimentary Pharmacology & Therapeutics·R Bahirwani, K R Reddy
Aug 4, 2015·Alimentary Pharmacology & Therapeutics·J J FeldT Heller
May 10, 2015·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Martine T P BesouwElena N Levtchenko
Apr 20, 2017·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·Christopher KohTheo Heller
Aug 24, 2010·Immunopharmacology and Immunotoxicology·Wojciech BłogowskiTeresa Starzyńska
Feb 6, 2020·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Rachel Nora Kasimer, Craig B Langman
Jun 5, 2021·The Journal of Allergy and Clinical Immunology·Cristiane J Nunes-SantosTheo Heller

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