Treatment of autoimmune polyglandular syndrome type 1 in children. Hypoparathyroidism: traditional approaches and perspectives

Abstract

Autoimmune polyendocrine syndrome type 1 (APS1) is a monogenic disease, defined by the presence of two of the three major components: hypoparathyroidism, primary adrenocortical insufficiency and chronic mucocutaneous candidiasis. In total, more than 30 manifestations of APS1 are described, while the patient can have up to 20 autoimmune diseases. Therefore, the management of patients with APS1 requires a multidisciplinary approach. The article presents a literature review on the treatment of one of APS1 classic endocrinopathy — hypoparathyroidism. Standard therapy of hypoparathyroidism is oral calcium and active vitamin D supplementation.Biological effects and metabolism of parathyroid hormone, vitamin D, calcium and magnesium are closely linked. Calcitriol doesn’t produce all the functions of the parathyroid hormone. Conventional treatment has several disadvantages: kidney damage; hyperphosphatemia that contributes to calcification in tissues; impaired bone remodeling. Patients with coexisting hypoparathyroidism and malabsorption syndrome are less responsive to conventional therapy, since it contributes to the normalization of calcium levels in the blood mainly by increasing of its absorption in the gastrointestinal tract. In recent decades, recombinant parathyroid hormone drugs have been successfully introduced into clinical practice. Use of a pump devicesis a particularly promising way of its delivery. Pump therapy has shown good results in the treatment of congenital and acquired hypoparathyroidism in adults and children. Development of new technologies of drug administrationwill make replacement therapy in APS1 closer to the physiological hormone secretion and improve the quality of life of patients.