A case report and literature review

Abstract

Rationale: Autoimmune polyendocrine syndrome type 1 (APS-1), also referred as the autoimmune polyendocrinopathy candidiasis-ectodermal dystrophy (APECED), is a rare autosomal inherited disease predominantly among Caucasians from Northern Europe. This syndrome is very rare in East Asian population. Patients concerns: Here, we describe a case of a 15-year-old Chinese boy admitted due to a 1-month history of intermittent fatigue, nausea, vomiting, and diarrhea. His symptom became worse accompanied with chest tightness 4 days before admission. On physical examination, his temperature was 38.5°C, blood pressure was 75/38 mm Hg, and pulse was 98/min. He was a thin boy with mild hyperpigmentation and xanthochromia. Diagnosis: After abdominal computed technology and laboratory tests, his diagnosis was APS-1 accompanied with adrenal crisis. Further investigation on whole-exome sequencing revealed a novel homozygous mutation c.47C>G (p.T16R) in exon 1 in the autoimmune regulator ( AIRE ) gene. Interventions: This patient underwent replacement therapy of glucocorticoids, corticosteroid, and levothyroxine, as well as calcium and calcitriol supplementation. Outcomes: He continues to do well 4 years after his hospitalization. During his last follow-up, he had serum thyroid-stimulating hormone level of 3.07 μIU/mL, free triiodothyronine level of 1.92 pg/mL, and free thyroxine level of 13.95 pg/mL. His serum cortisol and ACTH (8 a.m.) levels were 28.53 μg/dL and 69.48 pg/mL, respectively. Lessons: APS-1 is very rare in East Asians and the variable clinical presentations of the disease make the initial diagnosis especially difficult. Autoimmune thyroiditis, type 1 diabetes mellitus, and hepatitis were the three most frequent minor components of APS-1 in East Asian patients with age of onset in late teens and 20s. Sequence analysis of AIRE gene is necessary to verify its diagnostic efficacy in association with clinical findings.

AIRE Gene Mutation Presenting at Age 2 Years With Autoimmune Retinopathy and Steroid-Responsive Acute Liver Failure: A Case Report and Literature Review

“…Prevalence data for disease manifestations among patients with APECED in various countries and regions including Finland, Italy, Norway, Russia, North and South America, and Japan are summarized in Table 3 (5,6,9,(20)(21)(22). Among Japanese patients with APECED, Addison's disease, hypoparathyroidism, autoimmune thyroiditis, nail dystrophy, and enamel hypoplasia are less prevalent than in patients from other countries, while type 1 diabetes is more prevalent.…”

“…APECED, autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy; N, number of patients; N/A, not available. *The Japanese patients include our own, whom we added to the 9 Japanese patients in ref 20. for these frequency calculations.…”

Late-onset autoimmune polyendocrine syndrome type 1: a case report and literature review

“…Up to now, only about 20 Chinese APS-1 patients have been reported, the female/male ratio was 1.2, and the median age at diagnosis was 12.6 years (range 0.25–57 years). Autoimmune thyroiditis, type 1 diabetes mellitus, and hepatitis were more frequent minor components with onset age in the late teens [ 10 , 24 ].…”

“…In 1994, a genetic link between APS-1 and genes located in 21q22.3 was identified, and subsequently the autoimmune regulator ( AIRE ) was conformed as the causative gene [ 6 , 7 ]. The overall prevalence of the disease is lower than 10/million population but a higher prevalence in historically isolated populations such as Iranian Jews (1/9,000), Sardinians (1/14,000), and Finns (1/25,000) and lower in Norwegians (1/80,000) and Poland (1/129,000), while scarce in East Asians [ 8 – 10 ]. Clinically, it is a highly variable disease manifested with autoimmunity primarily involved in endocrine organs (parathyroid, adrenals, thyroid, gonads, pituitary) and non-endocrine organs (skin, liver, kidney, lung, eye, intestine) [ 8 , 11 ].…”

Autoimmune polyglandular syndrome type 1 with diabetes insipidus: a case report

“…It is relatively higher in Iranian Jews (1:9000), Sardinians (1:14,400), and Finns (1:25,000) [ 2 – 4 ]. However, APS-1 is quite rare in Eastern Asians [ 5 , 6 ].…”