Pseudohypoparathyroidism type Ib: a case report and review of literature

Česká verze

Published in the journal: Clinical Osteology 2021; 26(1): 39-43
Category: Kazuistiky

Summary

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

Zdroje

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Štítky

Biochemie Dětská gynekologie Dětská radiologie Dětská revmatologie Endokrinologie Gynekologie a porodnictví Interní lékařství Ortopedie Praktické lékařství pro dospělé Radiodiagnostika Rehabilitační a fyzikální medicína Revmatologie Traumatologie Osteologie

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