Pulmonary Arterial Hypertension in Glycogen Storage Disease Type I
J. inborn errors metab. screen
;
5: e160060, 2017. tab
Article
in English
|
LILACS-Express
| LILACS
| ID: biblio-1090922
ABSTRACT
Abstract Pulmonary arterial hypertension (PAH) is a rare and highly fatal disease that has been reported in 8 patients with glycogen storage disease type I (GSDI). We describe an additional case of an acute presentation of PAH in a 14-year-old patient with GSDI, which was successfully treated with inhaled nitric oxide and sildenafil. We investigated the incidence of PAH in 28 patients with GSDI on routine echocardiography and found no evidence of PAH and no significant cardiac abnormalities. This study highlights that PAH is a rare disease overall, but our case report and those previously described suggest an increased incidence in patients with GSDI. Should cardiopulmonary symptoms develop, clinicians caring for patients with GSDI should have a high degree of suspicion for acute PAH and recognize that prompt intervention can lead to survival in this otherwise highly fatal disease.
Full text:
Available
Index:
LILACS (Americas)
Language:
English
Journal:
J. inborn errors metab. screen
Journal subject:
Medicina Cl¡nica
/
Patologia
Year:
2017
Type:
Article
Affiliation country:
United States
Institution/Affiliation country:
Children's Hospital of Orange County/US
/
Duke University Medical Center/US
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