Type I Gaucher disease with exophthalmos and pulmonary arteriovenous malformation

BMC Medical Genetics

Volumn 6, Issue , 2005, Pages

  Chen, Chun An ^a   Tang, Nelson L S ^b   Chen, Yin Hsiu ^a   Zhang, Wei Min ^b   Wang, Jou Kou ^a   Hwu, Wuh Liang ^a  

^a NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

^b CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSYLCERAMIDE; IMIGLUCERASE;

ADULT; ARTERIOVENOUS MALFORMATION; ARTICLE; BONE DISEASE; CASE REPORT; CLINICAL FEATURE; DYSPNEA; EXOPHTHALMOS; FEMALE; FRACTURE; GAUCHER DISEASE; GENE MUTATION; HEPATOSPLENOMEGALY; HUMAN; HYPOXEMIA; LUNG BLOOD VESSEL; LUNG DISEASE; SPLENECTOMY; CONGENITAL MALFORMATION; PULMONARY ARTERY;

ADULT; ARTERIOVENOUS MALFORMATIONS; EXOPHTHALMOS; FEMALE; GAUCHER DISEASE; HUMANS; PULMONARY ARTERY;

EID: 26444491716     PISSN: 14712350     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-6-25     Document Type: Article

References (22)

1. Cotran RS, Kumar V, Robbins SL: Genetic disorders. In Pathologic Basis of Disease. 5th ed. Edited by Cotran RS, Kumar V, Robbins SL. Philadelphia: W. B. Saunders; 1994:143.
2. Amir G, Ron N: Pulmonary pathology in Gaucher's disease. Hum Pathol 1999, 30:666-70.
3. Kerem E, Elstein D, Abrahamov A, Bar Ziv Y, Hadas-Halpern I, Melzer E, Cahan C, Branski D, Zimran A: Pulmonary function abnormalities in type 1 Gaucher disease. Eur Respir J 1996, 9:340-5.
4. Dawson A, Elias DJ, Rubenson D, Bartz SH, Garver PR, Kay AC, Bloor CM, Beutler E: Pulmonary hypertension developing after alglucerase therapy in two patients with type 1 Gaucher disease complicated by the hepatopulmonary syndrome. Ann Intern Med 1996, 125:901-4.
5. Kim JH, Park CH, Pai MS, Hahn MH, Kim HJ: Hepatopulmonary syndrome in Gaucher disease with right-to-left shunt: evaluation and measurement using Tc-99m MAA. Clin Nucl Med 1999, 24:164-6.
6. Petrohelos M, Tricoulis D, Kotsiras I, Vouzoukos A: Ocular manifestations of Gaucher's disease. Am J Ophthalmol 1975, 80:1006-10.
7. Sasaki T, Tsukahara S: New ocular findings in Gaucher's disease: a report of two brothers. Ophthalmologica 1985, 191:206-9.
8. vom Dahl S, Niederau C, Haussinger D: Loss of vision in Gaucher's disease and its reversal by enzyme-replacement therapy. N Eng J Med 1998, 338:1471-2.
9. Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, Pastores G., Rosenbloom BE, Scott CR, Wappner RS, Weinreb NJ, Zimran A: The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease. Arch Intern Med 2000, 160:2835-43.
10. Ross DJ, Spira S, Buchbinder NA: Gaucher cells in pulmonary-capillary blood in association with pulmonary hypertension. N Eng J Med 1997, 336:379-81.
11. Hsu CC, Chien YH, Lai MY, Hwu WL: Enzyme replacement therapy with imiglucerase in Taiwanese patients with type I Gaucher disease. J Formos Med Assoc 2002, 101:627-31.
12. Harats D, Pauzner R, Elstein D, Many A, Klutstein MW, Kramer MR, Farfel Z, Zimran A: Pulmonary hypertension in two patients with type I Gaucher disease while on alglucerase therapy. Acta Haematol 1997, 98:47-50.
13. Pelini M, Boice D, O'Neil K, LaRocque J: Glucocerebrosidase treatment of type I Gaucher disease with severe pulmonary involvement. Ann Intern Med 1994, 121:196-7.
14. Mistry PK, Sirrs S, Chan A, Pritzker MR, Duffy TP, Grace ME, Meeker DP, Goldman ME: Pulmonary hypertension in type 1 Gaucher's disease: genetic and epigenetic determinants of phenotype and response to therapy. Mol Genet Metab 2002, 77:91-8.
15. Goitein O, Elstein D, Abrahamov A, Hadas-Halpern I, Melzer E, Kerem E, Zimran A: Lung involvement and enzyme replacement therapy in Gaucher's disease. Q J Med 2001, 94:407-15.
16. Edell ES, Cortese DA, Krowka MJ, Rehder K: Severe hypoxemia and liver disease. Am Rev Respir Dis 1989, 140:1631-5.
17. Elstein D, Klustein MW, Lahad A, Abrahamov A, Hadas-Halpern I, Zimran A: Echocardiographic assessment of pulmonary hypertension in Gaucher's disease. Lancet 1998, 351:1544-6.
18. Rudzki Z, Okon K, Machaczka M, Rucinska M, Papla B, Skotnicki AB: Enzyme replacement therapy reduces Gaucher cell burden but may accelerate osteopenia in patients with type I disease - a histological study. Eur J Haematol 2003, 70:273-81.
19. Eto Y, Ida H: Clinical and molecular characteristics of Japanese Gaucher disease. Neurochem Res 1999, 24:207-11.
20. Choy FY, Humphries ML, Shi H: Identification of two novel and four uncommon missense mutations among Chinese Gaucher disease patients. Am J Med Genet 1997, 71:172-8.
21. Kim JW, Liou BB, Lai MY, Ponce E, Grabowski GA: Gaucher disease: identification of three new mutations in the Korean and Chinese (Taiwanese) populations. Hum Mutat 1996, 7:214-8.
22. Cormand B, Grinberg D, Gort L, Fiumara A, Barone R, Vilageliu L, Chabas A: Two new mild homozygous mutations in Gaucher disease patients: Clinical signs and biochemical analyses. Am J Med Genet 1997, 70:437-43.