title: Clinical and molecular study of 4 cases of pulmonary hypertension associated with sarcoidosis.
abstract: Sarcoidosis is a pleomorphic disease that can present with pulmonary hypertension (PH). What little information is available about the association of these two diseases comes mainly from small series of patients scheduled for transplant. We present 4 cases of mild pulmonary involvement in whom right catheterisation was performed and PH-specific therapy was administered. After obtaining written consent, a genetic study was performed that showed mutations in PH-related genes in 3 of the patients. This is the first study of its kind to yield genetic information for this type of PH.
authors.affiliation: Servicio de Neumología, Complejo Hospitalario Universitario de Pontevedra, Pontevedra, España. Electronic address: adolfo.baloira.villar@sergas.es.
authors.forename: Adolfo
authors.initials: A
authors.lastname: Baloira Villar
authors.affiliation: Departamento de Genética, Bioquímica e Inmunología, Facultad de Biología, Universidad de Vigo, Vigo, Pontevedra, España.
authors.forename: Guillermo
authors.initials: G
authors.lastname: Pousada Fernández
authors.affiliation: Servicio de Neumología, Complejo Hospitalario Universitario de Pontevedra, Pontevedra, España.
authors.forename: Marta
authors.initials: M
authors.lastname: Núñez Fernández
authors.affiliation: Departamento de Genética, Bioquímica e Inmunología, Facultad de Biología, Universidad de Vigo, Vigo, Pontevedra, España.
authors.forename: Diana
authors.initials: D
authors.lastname: Valverde Pérez
mesh_terms: D052006:Bone Morphogenetic Protein Receptors, Type II / Q000172:deficiency / Q000235:genetics; D000077300:Bosentan; D018450:Disease Progression; D011464:Epoprostenol / Q000031:analogs & derivatives / Q000627:therapeutic use; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D006976:Hypertension, Pulmonary / Q000188:drug therapy / Q000209:etiology* / Q000503:physiopathology; D051666:Kv1.5 Potassium Channel / Q000172:deficiency / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010666:Phenylpropionates / Q000627:therapeutic use; D017354:Point Mutation; D011724:Pyridazines / Q000627:therapeutic use; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D012129:Respiratory Function Tests; D012507:Sarcoidosis / Q000150:complications* / Q000235:genetics; D000068677:Sildenafil Citrate / Q000627:therapeutic use; D013449:Sulfonamides / Q000627:therapeutic use; D000068581:Tadalafil / Q000627:therapeutic use; D016896:Treatment Outcome
chemical_list: C496981:KCNA5 protein, human; D051666:Kv1.5 Potassium Channel; D010666:Phenylpropionates; D011724:Pyridazines; D012333:RNA, Messenger; D013449:Sulfonamides; D000068581:Tadalafil; D000068677:Sildenafil Citrate; D011464:Epoprostenol; C498218:BMPR2 protein, human; D052006:Bone Morphogenetic Protein Receptors, Type II; C467894:ambrisentan; D000077300:Bosentan; C427248:treprostinil
keywords: Hipertensión pulmonar; Mutaciones; Mutations; Pulmonary hypertension; Sarcoidosis