Pseudo-hipoparatireoidismo
Резюме
Определение
Анамнез и осмотр
Ключевые диагностические факторы
- história familiar positiva de PHP
- cãibra muscular
- parestesias
- contrações musculares
- sinal de Chvostek positivo
- deficiência intelectual
- Osteodistrofia hereditária de Albright
- espasmos musculares
- tetania
- sinal de Trousseau positivo
Другие диагностические факторы
- letargia
- ansiedade
- convulsões
- discinesias paroxísticas
- unhas quebradiças
- cabelos ressecados
- calcificação subcutânea
- catarata
- características do hipotireoidismo
- características de outras resistências hormonais
- malformação de Chiari tipo 1
- história de cálculos biliares de colesterol
- características de psicose
Факторы риска
- história familiar positiva de PHP
Диагностические исследования
Исследования, которые показаны в первую очередь
- cálcio sérico
- fósforo sérico
- paratormônio (PTH) sérico
- creatinina sérica
- magnésio sérico
- 25-hidroxivitamina D sérica
- hormônio folículo-estimulante
- hormônio luteinizante
- estradiol
- testosterona
- hormônio do crescimento
- fator de crescimento semelhante à insulina-1
Исследования, проведение которых нужно рассмотреть
- radiografia das mãos
- eletrocardiograma (ECG)
- hormônio estimulante da tireoide (TSH) sérico
- tiroxina livre sérica (T4)
- resposta ao paratormônio humano exógeno (1-34)
- exame de densitometria óssea (DEXA)
- tomografia computadorizada (TC) do crânio
- análise da mutação do GNAS
Алгоритм лечения
hipocalcemia sintomática
hipocalcemia assintomática
Составители
Авторы
Neil Gittoes, MD, FRCP
Consultant Endocrinologist and Honorary Professor of Endocrinology
Department of Endocrinology
Centre for Endocrinology, Diabetes and Metabolism
Queen Elizabeth Hospital Birmingham
Birmingham
UK
Раскрытие информации
NG has contributed to advisory boards for Takeda and Shire pharmaceuticals.
John Ayuk, MD, FRCP
Consultant Endocrinologist
Department of Endocrinology
Queen Elizabeth Hospital Birmingham
Birmingham
UK
Раскрытие информации
JA declares that he has no competing interests.
Выражение благодарностей
Professor Neil Gittoes and Dr John Ayuk would like to gratefully acknowledge Dr Emad Naem and Dr Kent Wehmeier, previous contributors to this topic.
Раскрытие информации
EN and KW declare that they have no competing interests.
Рецензенты
Giovanna Mantovani, MD
Institute of Endocrine Science
University of Milan
Milan
Italy
Раскрытие информации
GM is an author of a number of references cited in this topic.
Ronald Merrell, MD
Professor of Surgery
Virginia Commonwealth University
Richmond
VA
Раскрытие информации
RM declares that he has no competing interests.
Peer reviewer acknowledgements
BMJ Best Practice topics are updated on a rolling basis in line with developments in evidence and guidance. The peer reviewers listed here have reviewed the content at least once during the history of the topic.
Disclosures
Peer reviewer affiliations and disclosures pertain to the time of the review.
Список литературы
Основные статьи
Mantovani G, Bastepe M, Monk D, et al. Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement. Nat Rev Endocrinol. 2018 Aug;14(8):476-500.Полный текст Аннотация
Mantovani G, Bastepe M, Monk D, et al. Recommendations for diagnosis and treatment of pseudohypoparathyroidism and related disorders: an updated practical tool for physicians and patients. Horm Res Paediatr. 2020;93(3):182-96.Полный текст Аннотация
American Society for Bone and Mineral Research. Primer on the metabolic bone diseases and disorders of mineral metabolism. 9th ed. 2018 [internet publication].Полный текст
Mantovani G, Spada A. Mutations in the Gs alpha gene causing hormone resistance. Best Prac Res Clin Endocrinol Metab. 2006 Dec;20(4):501-13. Аннотация
Bastepe M. The GNAS locus and pseudohypoparathyroidism. Adv Exp Med Bio. 2008;626:27-40. Аннотация
Greer FR, Krebs NF; American Academy of Pediatrics Committee on Nutrition. Optimizing bone health and calcium intakes of infants, children, and adolescents. Pediatrics. 2006 Feb;117(2):578-85.Полный текст Аннотация
Статьи, указанные как источники
A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.
Отличия
- Pseudopseudo-hipoparatireoidismo
- Hipoparatireoidismo primário
- Hiperparatireoidismo secundário
Больше ОтличияGuidelines
- Recommendations for diagnosis and treatment of pseudohypoparathyroidism and related disorders: an updated practical tool for physicians and patients
- Primer on the metabolic bone diseases and disorders of mineral metabolism
Больше Guidelines
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