title: Primary pulmonary arterial hypertension and autoimmune polyendocrine syndrome in a pediatric patient.
abstract: Both primary pulmonary artery hypertension (PPAH) and autoimmune polyendocrine syndrome (APS) are rare disorders in children. We report a boy who was diagnosed with severe PPAH at 12 years of age. He was treated with prostacyclin for 6 years, briefly with adjunct bosentan, and eventually sildenafil was added. Six years later, after his diagnosis of PPAH, he developed APS in the form of hyperthyroidism and type 1 diabetes mellitus. No mutations were identified through genetic testing of bone morphogenetic protein receptor type II and the autoimmune-regulator gene. To our knowledge this is the first description of the combination of these two extremely rare diseases in a child.
authors.affiliation: Division of Cardiology, Department of Pediatrics, British Columbia Children's Hospital, The University of British Columbia, Vancouver, Canada.
authors.forename: Mohammed H
authors.initials: MH
authors.lastname: Alghamdi
authors.forename: Michelle
authors.initials: M
authors.lastname: Steinraths
authors.forename: Constadina
authors.initials: C
authors.lastname: Panagiotopoulos
authors.forename: James E
authors.initials: JE
authors.lastname: Potts
authors.forename: George G S
authors.initials: GG
authors.lastname: Sandor
mesh_terms: D003937:Diagnosis, Differential; D018450:Disease Progression; D004452:Echocardiography; D005500:Follow-Up Studies; D006801:Humans; D006976:Hypertension, Pulmonary / Q000175:diagnosis / Q000209:etiology* / Q000503:physiopathology; D008297:Male; D016884:Polyendocrinopathies, Autoimmune / Q000150:complications* / Q000175:diagnosis; D011669:Pulmonary Wedge Pressure / Q000502:physiology; D055815:Young Adult
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