Nodular regenerative hyperplasia and severe portal hypertension in cystinosis

Clinical Gastroenterology and Hepatology

Volumn 4, Issue 3, 2006, Pages 387-394

  O'Brien, Kevin ^a,b   Hussain, Nadeem ^b   Warady, Bradley A ^d   Kleiner, David E ^c   Kleta, Robert ^a,b   Bernardini, Isa ^a   Heller, Theo ^b   Gahl, William A ^a,b  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b NATIONAL INSTITUTES OF HEALTH   (United States)

^c NATIONAL CANCER INSTITUTE   (United States)

^d CHILDREN S MERCY HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ANAMNESIS; ARTICLE; CASE REPORT; CLINICAL EXAMINATION; CLINICAL FEATURE; CYSTINOSIS; ENDOSCOPY; EVALUATION; HISTOLOGY; HUMAN; IMAGING SYSTEM; LABORATORY TEST; LIVER BIOPSY; LIVER DISEASE; LIVER HYPERPLASIA; MALE; MEDICAL DOCUMENTATION; PHYSICAL EXAMINATION; PORTAL HYPERTENSION; PRESSURE GRADIENT; VENOUS PRESSURE;

ADULT; CYSTINOSIS; HUMANS; HYPERPLASIA; HYPERTENSION, PORTAL; LIVER; MALE;

EID: 33644774337     PISSN: 15423565     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cgh.2005.12.013     Document Type: Article

References (49)

1. W.A. Gahl, J.G. Thoene, J.A. Schneider Cystinosis a disorder of lysosomal membrane transport C.R. Scriver A.L. Beaudet D. Valle The metabolic and molecular bases of inherited disease 8th ed. 2001 McGraw-Hill New York 5085 5108
2. W.A. Gahl, J.G. Thoene, J.A. Schneider Cystinosis N Engl J Med 347 2002 111 121
3. G. McDowell, W.A. Gahl, L. Stephenson Linkage of the gene for cystinosis to markers on the short arm of chromosome 17 Nat Genet 10 1995 246 248
4. M. Town, G. Jean, S. Cherqui A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis Nat Genet 18 1998 319 324
5. W.A. Gahl, F. Tietze, N. Bashan Defective cystine exodus from isolated lysosome-rich fractions of cystinotic leukocytes J Biol Chem 257 1982 9570 9575
6. W.A. Gahl, N. Bashan, F. Tietze Cystine transport is defective in isolated leukocyte lysosomes from patients with cystinosis Science 217 1982 1263 1265
7. H.S. Barr, H. Bickel Morbid anatomy, histology, and pathogenesis of Lignac-Fanconi disease Acta Paediatr Suppl 90 1952 171
8. N. Gretz, F. Manz, R. Augustin Survival time in cystinosis a collaborative study Proc Eur Dial Transplant Assoc 19 1983 582 589
9. D.S. Theodoropoulos, D. Krasnewich, M.I. Kaiser-Kupfer Classic nephropathic cystinosis as an adult disease JAMA 270 1993 2200 2204
10. W.A. Gahl, M. Dalakas, L. Charnas Myopathy and cystine storage in muscles in patients with nephropathic cystinosis N Engl J Med 319 1988 1461 1464
11. L.R. Charnas, C.A. Luciano, M. Dalakas Distal vacuolar myopathy in nephropathic cystinosis Ann Neurol 35 1994 181 188
12. B.C. Sonies, E.F. Ekman, H.C. Andersson Swallowing dysfunction in nephropathic cystinosis N Engl J Med 323 1990 565 570
13. B. Fivush, O.C. Green, C.C. Porter Pancreatic endocrine insufficiency in post-transplant cystinosis Am J Dis Child 141 1987 1087 1089
14. C.L. Chik, A. Friedman, G.R. Merriam Pituitary-testicular function in nephropathic cystinosis Ann Intern Med 119 1993 568 575
15. Y. Anikster, F. Lacbawan, M. Brantly Pulmonary dysfunction in adults with nephropathic cystinosis Chest 119 2001 394 401
16. J.H.H. Ehrich, L. Stoeppler, G. Offner Evidence for cerebral involvement in nephropathic cystinosis Neuropaediatrie 10 1979 128 137
17. J.K. Fink, P. Brouwers, N. Barton Neurologic complications in longstanding nephropathic cystinosis Arch Neurol 46 1989 543 548
18. C.F. Dogulu, E. Tsilou, B. Rubin Idiopathic intracranial hypertension in cystinosis J Pediatr 145 2004 673 678
19. J.G. Thoene, R.G. Oshima, J.C. Crawhall Cystinosis. Intracellular cystine depletion by aminothiols in vitro and in vivo J Clin Invest 58 1976 180 189
20. W.A. Gahl, G.F. Reed, J.G. Thoene Cysteamine therapy for children with nephropathic cystinosis N Engl J Med 316 1987 971 977
21. T.C. Markello, I.M. Bernardini, W.A. Gahl Improved renal function in children with cystinosis treated with cysteamine N Engl J Med 328 1993 1157 1162
22. V.E. Kimonis, J. Troendle, S.R. Rose Effects of early cysteamine therapy on thyroid function and growth in nephropathic cystinosis J Clin Endocrinol Metab 80 1995 3257 3261
23. B.C. Sonies, P. Almajid, R. Kleta Swallowing dysfunction in 101 patients with nephropathic cystinosis. Benefit of long-term cysteamine therapy Medicine 84 2005 137 146
24. M.I. Kaiser-Kupfer, L. Fujikawa, T. Kuwabara Removal of corneal crystals by topical cysteamine in nephropathic cystinosis N Engl J Med 316 1987 775 779
25. M.I. Kaiser-Kupfer, M.A. Gazzo, M.B. Datiles A randomized placebo-controlled trial of cysteamine eyedrops in nephropathic cystinosis Arch Ophthalmol 108 1990 689 693
26. W.A. Gahl, E.M. Kuehl, F. Iwata Corneal crystals in nephropathic cystinosis natural history and treatment with cysteamine eyedrops Mol Genet Metab 71 2000 100 121
27. W.A. Gahl, J.A. Schneider, J.G. Thoene The course of nephropathic cystinosis after age 10 years J Pediatr 109 1986 605 608
28. E.D. Avner, D. Ellis, R. Jaffe Veno-occlusive disease of the liver associated with cysteamine treatment of nephropathic cystinosis J Pediatr 102 1983 793 795
29. S. Rossi, S.K. Herrine, V.J. Navarro Cystinosis as a cause of noncirrhotic portal hypertension Dig Dis Sci 50 2005 1372 1375
30. P.J. Klenn, R. Rubin Hepatic fibrosis associated with hereditary cystinosis a novel form of noncirrhotic portal hypertension Mod Pathol 7 1994 879 882
31. P. DiDomenico, G. Berry, D. Bass Noncirrhotic portal hypertension in association with juvenile nephropathic cystinosis case presentation and review of the literature J Inherit Metab Dis 27 2004 693 699
32. R.G. Oshima, R.C. Willis, C.E. Furlong Binding assays for amino acids J Biol Chem 249 1974 6033 6039
33. V. Shotelersuk, D. Larson, Y. Anikster CTNS mutations in an American-based population of cystinosis patients Am J Hum Genet 63 1998 1352 1362
34. Y. Anikster, C. Lucero, J.W. Touchman Identification and detection of the common 65-kb deletion breakpoint in the nephropathic cystinosis gene (CTNS) Mol Genet Metab 66 1999 111 116
35. R. Kleta, Y. Anikster, C. Lucero CTNS mutations in African American patients with cystinosis Mol Genet Metab 74 2001 332 337
36. M. Broyer, M.J. Tete, M.C. Gubler Late symptoms in infantile cystinosis Pediatr Nephrol 1 1987 519 524
37. W.A. Gahl, J.D. Schulman, J.G. Thoene Hepato-toxicity of cysteamine J Pediatr 103 1983 1008 1009
38. W.A. Gahl, L. Charnas, T.C. Markello Parenchymal organ cystine depletion with long term cysteamine therapy Biochem Med Metab Biol 48 1992 275 285
39. S.A. Geller, M.C. Dubinsky, F.F. Poordad Early hepatic nodular hyperplasia and submicroscopic fibrosis associated with 6-thioguanine therapy in inflammatory bowel disease Am J Surg Pathol 28 2004 1204 1211
40. C. Buffet, M. Cantarovitch, G. Pelletier Three cases of nodular regenerative hyperplasia of the liver following renal transplantation Nephrol Dial Transplant 3 1988 327 330
41. J.M. Morales, C. Prieto, F. Colina Nodular regenerative hyperplasia of the liver in renal transplantation Transplant Proc 19 1987 3694 3696
42. A.H. Naber, U. VanHaelst, S.H. Yap Nodular regenerative hyperplasia of the liver an important cause of portal hypertension in non-cirrhotic patients J Hepatol 12 1991 94 99
43. J.E. Bredfeldt, A.L. Havey Nodular regenerative hyperplasia of the liver following renal transplantation Dig Dis Sci 26 1981 271 274
44. D. Thiele Hepatic manifestations of systemic disease and other disorders of the liver M. Feldman L.S. Friedman M.H. Sleisenger Sleisenger and Fordtran's gastrointestinal and liver disease pathophysiology/diagnosis/management 7th ed. 2002 Saunders Philadelphia 1615 1616
45. K.A. Al-Mukhaizeem, A. Rosenberg, A.H. Sherker Nodular regenerative hyperplasia of the liver an under-recognized cause of portal hypertension in hematological disorders Am J Hematol 75 2004 225 230
46. J. Mahamid, I. Miselevich, D. Attias Nodular regenerative hyperplasia associated with idiopathic thrombocytopenic purpura in a young girl a case report and review of the literature J Pediatr Gastroenterol Nutr 41 2005 251 255
47. K. Shimamatsu, I.R. Wanless Role of ischemia in causing apoptosis, atrophy, and nodular hyperplasia in human liver Hepatology 26 1997 343 350
48. G. Mourad, P. Bories, C. Bethelemy Peliosis hepatis and nodular regenerative hyperplasia of the liver in renal transplants. Is cytomegalovirus the cause of this severe disease? Transplant Proc 19 1987 3697 3698
49. M.C. Jones, P.V. Best, G.R. Catto Is nodular regenerative hyperplasia of the liver associated with azathioprine therapy after renal transplantation? Nephrol Dial Transplant 3 1988 331 333