Abstract

The objective of this study was to describe a constellation of rare pediatric disorders, pulmonary arterial hypertension (PAH) and autoimmune polyendocrine syndromes (APS). This study present a brief report of a child diagnosed with autoimmune type 1 diabetes mellitus (T1DM) at age 11 and with PAH three years later, when he was re-presented with symptoms of chest pain, lethargy, syncope and vomiting. Following a saline bolus, he became severely hypoxic. Echocardiogram and cardiac catheterization confirmed PAH. Following a literature search of these two concomitant rare conditions, suspicion was raised of a uniform diagnosis of APS; autoimmune regulator (AIRE) gene analysis revealed a heterozygous c1203T>C (p.P401P) mutation on chromosome 21q22. Screening for other autoimmune involvement was negative thus far. Pulmonary AH should be included within the rare components of APS as the independent occurrence of these two rare disorders is highly unlikely in particular in the context of an identified mutation within the AIRE gene.

Key words: Autoimmune polyglandular syndrome, pulmonary arterial hypertension, type 1 diabetes mellitus, autoimmune regulator gene, polyglandular endocrinopathy.