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:
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
- 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.
Štítky
Clinical biochemistry Paediatric gynaecology Paediatric radiology Paediatric rheumatology Endocrinology Gynaecology and obstetrics Internal medicine Orthopaedics General practitioner for adults Radiodiagnostics Rehabilitation Rheumatology Traumatology OsteologyČlánok vyšiel v časopise
Clinical Osteology
2021 Číslo 1
- Advances in the Treatment of Myasthenia Gravis on the Horizon
- Memantine Eases Daily Life for Patients and Caregivers
- What Effect Can Be Expected from Limosilactobacillus reuteri in Mucositis and Peri-Implantitis?
- Spasmolytic Effect of Metamizole
- Metamizole at a Glance and in Practice – Effective Non-Opioid Analgesic for All Ages
Najčítanejšie v tomto čísle
- 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