Complicated granulomatous colitis in a Japanese patient with Hermansky-Pudlak syndrome, successfully treated with infliximab

Clinical Journal of Gastroenterology

Volumn 2, Issue 1, 2009, Pages 51-54

  Yoshiyama, Shigeyuki ^a   Miki, Chikao ^a   Araki, Toshimitsu ^a   Morimoto, Yuki ^a   Okita, Yoshiki ^a   Kusunoki, Masato ^a  

^a MIE UNIVERSITY   (Japan)

Author keywords

Granulomatous colitis; Hermansky Pudlak syndrome; Infliximab

Indexed keywords

AZATHIOPRINE; INFLIXIMAB; MESALAZINE; SALAZOSULFAPYRIDINE; STEROID;

ADULT; ARTICLE; CASE REPORT; COLITIS; COLONOSCOPY; COLOSTOMY; FISTULA; GRANULOMATOUS COLITIS; HUMAN; HUMAN CELL; JAPANESE; MALE; MENTAL DEFICIENCY; OCULAR ALBINISM; PRIORITY JOURNAL; PROCTITIS; RECTUM BIOPSY; REMISSION; TREATMENT OUTCOME;

EID: 77953468505     PISSN: 18657257     EISSN: 18657265     Source Type: Journal    
DOI: 10.1007/s12328-008-0049-5     Document Type: Article

References (20)

1. F Hermansky P Pudlak 1959 Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies Blood 14 162 169
2. SM Garay JE Gardella EP Fazzini RM Goldring 1979 Hermansky-Pudlak syndrome. Pulmonary manifestations of a ceroid storage disorder Am J Med 66 737 747 (Pubitemid 9189329)
3. RA Schinella MA Greco BL Cobert LW Denmark RP Cox 1980 Hermansky-Pudlak syndrome with granulomatous colitis Ann Intern Med 92 20 23 (Pubitemid 10135218)
4. A Sherman L Genuth CG Hazzi EJ Balthazar RA Schinella 1989 Perirectal abscess in the Hermansky-Pudlak syndrome Am J Gastroenterol 84 552 556 (Pubitemid 19143080)
5. A de Leusse E Dupuy M Huizing C Danel G Meyer R Jian 2006 Ileal Crohn's disease in a woman with Hermansky-Pudlak syndrome Gastroenterol Clin Biol 30 621 624 (Pubitemid 43844290)
6. Y Erzin S Cosgun A Dobrucali M Tasyurekli S Erdamar M Tuncer 2006 Complicated granulomatous colitis in a patient with Hermansky-Pudlak syndrome, successfully treated with infliximab Acta Gastroenterol Belg 69 213 216 (Pubitemid 44265345)
7. AL Grucela P Patel E Goldstein R Palmon DB Sachar RM Steinhagen 2006 Granulomatous enterocolitis associated with Hermansky-Pudlak syndrome Am J Gastroenterol 101 2090 2095 (Pubitemid 44337635)
8. M Huizing Y Anikster WA Gahl 2001 Hermansky-Pudlak syndrome and Chediak-Higashi syndrome: disorders of vesicle formation and trafficking Thromb Haemost 86 233 245 (Pubitemid 32663954)
9. N Hussain M Quezado M Huizing D Geho JG White W Gahl 2006 Intestinal disease in Hermansky-Pudlak syndrome: occurrence of colitis and relation to genotype Clin Gastroenterol Hepatol 4 73 80 (Pubitemid 43129527)
10. R Mahadeo J Markowitz S Fisher F Daum 1991 Hermansky-Pudlak syndrome with granulomatous colitis in children J Pediatr 118 904 906
11. H Sandberg-Gertzen R Eid G Jarnerot 1999 Hermansky-Pudlak syndrome with colitis and pulmonary fibrosis Scand J Gastroenterol 34 1055 1056 (Pubitemid 29512877)
12. CJ Witkop M Nunez Babcock GH Rao F Gaudier CG Summers F Shanahan 1990 Albinism and Hermansky-Pudlak syndrome in Puerto Rico Bol Asoc Med P R 82 333 339
13. J Oh L Ho S Ala-Mello D Amato L Armstrong S Bellucci 1998 Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity Am J Hum Genet 62 593 598 (Pubitemid 28164616)
14. S Ito T Suzuki K Inagaki N Suzuki K Takamori T Yamada 2005 High frequency of Hermansky-Pudlak syndrome type 1 (HPS1) among Japanese albinism patients and functional analysis of HPS1 mutant protein J Invest Dermatol 125 715 720
15. WC Lim SB Hanauer 2004 Emerging biologic therapies in inflammatory bowel disease Rev Gastroenterol Disord 4 66 85
16. D Hazzan S Seward H Stock S Zisman K Gabriel N Harpaz 2006 Crohn's-like colitis, enterocolitis and perianal disease in Hermansky-Pudlak syndrome Colorectal Dis 8 539 543 (Pubitemid 44210103)
17. CJ Witkop Jr LS Wolfe SX Cal JG White D Townsend KM Keenan 1987 Elevated urinary dolichol excretion in the Hermansky-Pudlak syndrome. Indicator of lysosomal dysfunction Am J Med 82 463 470 (Pubitemid 18131145)
18. WA Gahl M Brantly MI Kaiser-Kupfer F Iwata S Hazelwood V Shotelersuk 1998 Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome) N Engl J Med 338 1258 1264 (Pubitemid 28216579)
19. DH Present P Rutgeerts S Targan SB Hanauer L Mayer RA van Hogezand 1999 Infliximab for the treatment of fistulas in patients with Crohn's disease N Engl J Med 340 1398 1405 (Pubitemid 29205403)
20. P Rutgeerts G Van Assche S Vermeire 2004 Optimizing anti-TNF treatment in inflammatory bowel disease Gastroenterology 126 1593 1610 (Pubitemid 38649876)