Pulmonary hypertension and inherited metabolic diseases
WU Yan
ZHAO Jun-han
JING Zhi-cheng
Abstract：Among the NICE classification of pulmonary hypertension,inherited metabolic disease is a rare genetic disease,most of which are autosomal recessive inheritance.The aberration of enzyme or the cell membrane function due to gene defect causes the disorder of biochemistry metabolism and multi-organ dysfunction.At present,the common inherited metabolic diseases with pulmonary hypertension mainly include Gaucher disease,methylphthalate disease and glycogen storage disease.The pathogenesis of inherited metabolic diseases combined with pulmonary hypertension is not clear.The clinical symptoms of patients are lack of specificity and the diagnosis is difficult.At present,for inherited metabolic disease with pulmonary hypertension,the main treatment is to cure the primary disease and pulmonary hypertension can be improved or even reversed when the treatment is combined with targeted drug therapy.In clinical practice,it is necessary to improve the diagnostic awareness of inherited metabolic diseases combined with pulmonary hypertension as well as the screening of metabolic diseases.Early detection and therapyis beneficial to the prognosis of patients.
Keywords：pulmonary hypertensioninherited metabolic diseaseGaucher diseasemethyl phthalate diseaseglycogen storage disease
Publication Date：2017-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：4( 412-414,418 )