HLAVNÍ TÉMA Klinické manifestácie chronickej hypoparatyreózy | 27 / Vnitř Lék. 2024;70(1):22-27 / VNITŘNÍ LÉKAŘSTVÍ www.casopisvnitrnilekarstvi.cz kosti, zvýšenie kostnej denzity, či tvorba nefrolitiázy/kalcinózy, alebo kalcifikácií bazálnych ganglií. Preukázané sú aj funkčné zmeny orgánov, kam patrí progresia renálneho zlyhávania, srdcové zlyhávanie, vznik arytmií, zmeny dráždivosti neurónov, epileptické záchvaty, či častejšie infekcie. Sľubné výsledky boli preukázané pri substitučnej terapii rekombinantným parathormónom – sérové hladiny kalciémie boli stabilnejšie, klesala kalciúria aj fosfatémia či hladina kalcium-fosfátového súčinu, taktiež sa stabilizovala renálna funkcia u týchto pacientov a normalizovala sa štruktúra kostí (50, 51). Uvedená liečba však momentálne nie je dostupná. PROHLÁŠENÍ AUTORŮ: Prohlášení o původnosti: Publikace byla zpracována s využitím uvedené literatury a nebyla publikována ani zaslána k recenznímu řízení do jiného média. Střet zájmů: Žádný. Financování: Ne. Poděkování: N/A. Registrace v databázích: N/A. Projednání etickou komisí: N/A. LITERATÚRA 1. Siraj N, Hakami Y, Khan A. Medical hypoparathyroidism. Endocrinol Metab Clin North Am. 2018;47(4):797-808. 2. Hannan FM, Babinsky VN, Thakker RV. Disorders of the calcium-sensing receptor and partner proteins: insights into the molecular basis of calcium homeostasis. J Mol Endocrinol. 2016;57(3):R127–R142. 3. El-Hattab AW, Adesina AM, Jones J, Scaglia F. MELAS syndrome: clinical manifestations, pathogenesis, and treatment options. Mol Genet Metab. 2015;116(1-2):4-12. 4. Abraham MB, Li D, Tang D, et al. Short stature and hypoparathyroidism in a child with Kenny-Caffey syndrome type 2 due to a novel mutation in FAM111A gene. Int J Pediatr Endocrinol. 2017;2017:1. 5. Shoback D. Clinical practice. Hypoparathyroidism. N Engl J Med. 2008;359(4):391-403. 6. Melmed S, Auchus J, Goldfine A, et al. Parathyroid hormone, Williams Textbook of Endocrinology 14th ed. 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