Pseudohypoparatyreóza typu Ib: kazuistika a literárny prehľad
:
Clinical Osteology 2021; 26(1): 39-43
:
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.
Sources
- Underbjerg L, Sikjaer T, Mosekilde L et al. Pseudohypoparathyroidism – epidemiology, mortality and risk of complications. Clin Endocrinol (Oxf) 2016; 84(6): 904–911. Dostupné z DOI: <http://dx.doi.org/10.1111/cen.12948>.
- Germain-Lee EL. Management of pseudohypoparathyroidism. Curr Opin Pediatr 2019; 31(4): 537–549. Dostupné z DOI: <http://dx.doi.org/10.1097/MOP.0000000000000783>.
- Nakamura Y, Matsumoto T, Tamakoshi A at al. Prevalence of idiopathic hypoparathyroidism and pseudohypoparathyroidism in Japan. J Epidemiol 2000; 10(1): 29–33. Dostupné z DOI: <http://dx.doi.org/10.2188/jea.10.29>.
- Mantovani G, Bastepe M, Monk D et al. Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement. Nat Rev Endocrinol 2018; 14(8): 476–500. Dostupné z DOI: <http://dx.doi.org/10.1038/s41574–018–0042–0>.
- Lemos MC, Thakker RV. GNAS mutations in Pseudohypoparathyroidism type 1a and related disorders. Hum Mutat 2015; 36(1): 11–19. Dostupné z DOI: <http://dx.doi.org/10.1002/humu.22696>.
- Eyre WG, Reed WB. Albright hereditary osteodystrophy with cutaneous bone formation. Arch Dermatol 1971; 104(6): 634–642.
- Farfel Z, Friedman E. Mentaldeficiency in pseudohypoparathyroidism type I isassociated with Ns-proteindeficiency. Ann Intern Med 1986; 105(2): 197–199. Dostupné z DOI: <http://dx.doi.org/10.7326/0003–4819–105–2-197>.
- Mallette LE, Kirkland JL, Gagel RF et al. Synthetic human parathyroid hormone-(1–34) for the study of pseudohypoparathyroidism. J Clin Endocrinol Metab 1988; 67(5): 964–972. Dostupné z DOI: <http://dx.doi.org/10.1210/jcem-67–5-964>.
- Mantovani G, Spada A, Elli FM. Pseudohypoparathyroidism and Gsalpha-cAMP-linked disorders: current view and open issues. Nat Rev Endocrinol 2016; 12(6): 347–356. Dostupné z DOI: <http://dx.doi.org/10.1038/nrendo.2016.52>.
- Linglart A, Menguy C, Couvineau A et al. Recurrent PRKAR1A mutation in acrodysostosis with hormone resistance. N Engl J Med 2011; 364(23): 2218–2226. Dostupné z DOI: <http://dx.doi.org/10.1056/NEJMoa1012717>.
- Bringhurst FR, Demay BM, Kronenberg HM. Hormones and Disorders of Mineral Metabolism. In: Shlomo M (ed). Williams Textbook of Endocrinology. 14th ed. ELSEVIER: Philadelphia 2019: 1242. ISBN 978–0323555968.
- Levine MA. An update on theclinical and molecular characteristics of pseudohypoparathyroidism. Curr Opin Endocrinol Diabetes Obes 2012; 19(6): 443–451. Dostupné z DOI: <http://dx.doi.org/10.1097/MED.0b013e32835a255c>.
- Tafaj O, Juppner H. Pseudohypoparathyroidism: one gene, several syndromes. J Endocrinol Invest 2017; 40(4): 347–356. Dostupné z DOI: <http://dx.doi.org/10.1007/s40618–016–0588–4>.
- Mantovani G. Clinical review: Pseudohypoparathyroidism: diagnosis and treatment. J ClinEndocrinolMetab 2011; 96(10): 3020–3030. Dostupné z DOI: <http://dx.doi.org/10.1210/jc.2011–1048>.
- Fernandez-Rebollo E, Perez de Nanclares G, Lecumberri B et al. Exclusion of the GNAS locus in PHP-Ib patients with broad GNAS methylation changes: evidence for an autosomal recessive form of PHP-Ib? J Bone Miner Res 2011; 26(8): 1854–1863. Dostupné z DOI: <http://dx.doi.org/10.1002/jbmr.408>.
- Štrbák V. Fyziológia endokrinného systemu. In: Javorka K (ed). Lekárska fyziológia. 3. prepracované a doplnené vyd. Osveta: Martin 2009: 430–431. ISBN 9788080632915.
- Murray TM, Rao LG, Wong MM et al. Pseudohypoparathyroidism with osteitis fibrosacystica: direct demonstration of skeletal responsiveness to parathyroid hormone in cells cutured from bone. J Bone Miner Res 1993; 8(1): 83–91. Dostupné z DOI: <http://dx.doi.org/10.1002/jbmr.5650080111>.
- Chu X, Zhu Y, Wang O et al. Bone mineral density and its serial changes are associated with PTH levels in pseudohypoparathyroidism type 1B patients. J Bone Miner Res 2018; 33(4): 743–752. Dostupné z DOI: <http://dx.doi.org/10.1002/jbmr.3360>.
- Neary NM, El-Maouche D, Hopkins R et al. Development and treatment of tertiary hyperparathyroidism in patients with pseudohypoparathyroidism type 1B. J Clin Endocrinol Metab 2012; 97(9): 3025–3030. Dostupné z DOI: <http://dx.doi.org/10.1210/jc.2012–1655>.
- Park HS, Kim CG, Hong N et al. Osteosarcoma in a patient with pseudohypoparathyroidism type 1b due to paternal uniparental disomy of chromosome 20q. J Bone Miner Res 2017; 32(4): 770–775. Dostupné z DOI: <http://dx.doi.org/10.1002/jbmr.3043.
Labels
Clinical biochemistry Paediatric gynaecology Paediatric radiology Paediatric rheumatology Endocrinology Gynaecology and obstetrics Internal medicine Orthopaedics General practitioner for adults Radiodiagnostics Rehabilitation Rheumatology TraumatologyArticle was published in
Clinical Osteology
![Issue 1](https://www.prolekare.cz/media/cache/resolve/journal_issue/media/image_pdf/d3fb5e69af15a44b5d0f3e92885984d0.jpeg)
2021 Issue 1
Most read in this issue
- Relapsing hypercalcemia – a hard diagnostic nut to crack: a case report
- Steel syndrome – the first case of rare skeletal dysplasia in Slovakia: a case report
- Pseudohypoparathyroidism type Ib: a case report and review of literature
- Adherence to non-pharmacological procedures in the treatment of postmenopausal osteoporosis: a pilot study