Bonilla-Merino A, Ordoñez-Gutierrez EA, Gómez-Guillermoprieto L, Villatoro-Fernández J, Jiménez-Urueta PS

Language: Spanish
References: 10
Page: 137-141
PDF size: 445.72 Kb.

ABSTRACT

Introducción: Gaucher’s disease is caused by a deficiency in the glucocerebrosidase enzyme which results in lysosomal deposits and lack of degradation of the glucocerebroside sustrate. It is classified as type 1, 2 and 3 according to the degree of neurologic involvement; its course may be acute, subacute or chronic. The central nervous system, skeletal and muscular, reticulo-endothelial and respiratory systems are the most commonly affected. A very unusual association is the presence of pulmonary arteriovenous fistulae. We report a patient with pulmonary arteriovenous fistula and type 1 Gaucher disease.
Case report: A 17 year old female presented with a history of long-standing dyspnea and fainting spells during the last year. A cardiac catheterization revealed a pulmonary artriovenous fistula related to hepatopulmonary syndrome.
Discussion: Type 1 Gaucher disease and pulmonary arteriovenous fistula has been recenty described.

REFERENCES

1. Lema MM. Programa para pacientes con enfermedad de Gaucher tipo 1. Medicancer 2006;113:112-19.

2. Ruf A. El rol del trasplante hepático en la hipertensión portal no cirrótica. Clin Liver Dis 2006;10:627-51.

3. Zuckerman S,Lahad A, Shmueli A, Zimran A,Peleg L, Orr- Urtreger A, Levy-Lahad E, Sagi M. Carrier screening for Gaucher disease. JAMA 2007;298:1281-90.

4. Chun-An C, Nelson LS, Yin-Hsiu C, Wei-Min Z, Jou-Kou W, Wuh-Liang H. Type I Gaucher disease with exophthalmos and pulmonary arteriovenous malformation. BMG 2005;6:25.

5. Dominique PG. Gaucher’s disease: a paradigm for interventional genetics. Clin Genet 2004;65:77-86.

6. Wine E, Yaniv I, Cohen IJ. Hyperimmunoglobulinemia in pediatric-onset type 1 Gaucher disease and effects of enzyme replacement therapy. JPH/O 2007;29:451-57.

7. Miller A, Brown LK, Pastores GM, Desnick RJ. Pulmonary involvement in type 1 Gaucher disease: functional and exercise findings in patients with and without clinical interstitial lung disease. Clin Genet 2003;63:368-76.

8. Cannon J, Usmani O, Chambers J, Thompson R, Twort C. Intrapulmonary shunting and hepatopulmonary syndrome. JHM 2005;66:312-13.

9. Muñoz SE. Síndrome hepatopulmonar e hipertensión portopulmonar. Definiciones y terapias. Gastr Latin 2006;17:222-35.

10. López-Gaston O. Síndrome de platipnea-ortodeoxia. Medicina (Buenos Aires) 2005;65:268-72.