Pseudohypoparatyreóza typu Ib: kazuistika a literárny prehľad

Pseudohypoparathyroidism type Ib: a case report and review of literature

Pseudohypoparathyroidism (PHP) is a group of rare hereditary diseases caused by tissue resistance to parathyroid hormone (PTH), there are two main types I and II. Type I is divided into subtypes. The authors present a case of PHP Ib with hypocalcemia accidentally detected at childbirth. After the unsuccessful treatment of hypocalcemia, the etiology was considered. Although PHP was considered and treatment was tried, the confirmation of the diagnosis and the treatment were not adequately tightened. Years later, PHP Ib has been genetically confirmed. By adjusting the treatment, the difficulties subsided and the effect of PTH on bone was reduced, which is expected to improve the prognosis to the level of the population.

Keywords:

hyperphosphatemia – hypocalcemia – Parathyroid hormone – pseudohypoparathyroidism

Vyšlo v časopise: Clinical Osteology 2021; 26(1): 39-43
Kategorie: Kazuistiky

Souhrn

Pseudohypoparatyreóza (PHP) je skupina raritných vrodených ochorení spôsobená rezistenciou tkanív na parathormón (PTH), ktoré delíme na I a II typ. Typ I sa člení na podtypy. Autori prezentujú prípad PHP Ib s náhodne pri pôrode zachytenou hypokalciémiou. Po neúspešnej liečbe hypokalciémie sa začalo uvažovať o príčine. Aj keď sa na PHP myslelo a liečba bola skusmo zahájená, potvrdenie diagnózy a liečba neboli adekvátne dotiahnuté. Po rokoch bola PHP Ib potvrdená geneticky. Úpravou liečby došlo k ústupu ťažkostí a zníženiu účinku PTH na kosť, čím sa predpokladá zlepšenie prognózy na úroveň populácie.

Zdroje

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Štítky

Biochémia Detská gynekológia Detská rádiológia Detská reumatológia Endokrinológia Gynekológia a pôrodníctvo Interné lekárstvo Ortopédia Praktické lekárstvo pre dospelých Rádiodiagnostika Rehabilitácia Reumatológia Traumatológia Osteologie

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