Zobrazeno 1 - 10
of 1 209
pro vyhledávání: '"Familial hypocalciuric hypercalcemia"'
Autor:
Chien-Ming Lin, Yi-Xuan Ding, Shih-Ming Huang, Ying-Chuan Chen, Hwei-Jen Lee, Chih-Chien Sung, Shih-Hua Lin
Publikováno v:
Frontiers in Endocrinology, Vol 15 (2024)
ContextAlthough a monoallelic mutation in the calcium-sensing receptor (CASR) gene causes familial hypocalciuric hypercalcemia (FHH), the functional characterization of the identified CASR mutation linked to the clinical response to calcimimetics the
Externí odkaz:
https://doaj.org/article/d9497854737749adab87e42ed63c9c01
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
ContextA germline mutation can be identified in up to 10% of patients with primary hyperparathyroidism (PHPT). In 2017, a high frequency of the GCM2 [(NM_ 004752.4) c.1181A> C; p.Tyr394Ser; rs142287570] variant was reported in PHPT Ashkenazi Jews (AJ
Externí odkaz:
https://doaj.org/article/92f6efaf49e44714b313cb59fd3ea515
Autor:
Mojca Jensterle, Andrej Janež, Tina Vipotnik Vesnaver, Maruša Debeljak, Nika Breznik, Katarina Trebušak Podkrajšek, Rok Herman, Eric Fliers, Tadej Battelino, Magdalena Avbelj Stefanija
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
IntroductionThe occurrence of prolactinomas in sex hormone treated patients with central hypogonadism is extremely rare.Case presentationWe present a Caucasian male patient who was diagnosed with Kallmann syndrome (KS) at age 15 years. Testosterone t
Externí odkaz:
https://doaj.org/article/46a23ec0abd5479dbc969d990c45e030
Autor:
Panagiotis Bletsis, MD, Rosemarie Metzger, MD, J. Alex Nelson, DO, Justin Gasparini, MS, Mahmoud Alsayed, MD, Mira Milas, MD
Publikováno v:
AACE Clinical Case Reports, Vol 8, Iss 5, Pp 194-198 (2022)
Background/Objective: Familial hypocalciuric hypercalcemia (FHH) is an uncommon cause of hypercalcemia; however, it is important to consider and rule out in patients with suspected primary hyperparathyroidism (PHPT), ideally, before proceeding with s
Externí odkaz:
https://doaj.org/article/886a689676c945c09c4ce769ac5f205f
Publikováno v:
Medicine Science, Vol 11, Iss 4, Pp 1731-3 (2022)
Familial hypocalciuric hypercalcemia (FHH) is a benign disease associated with heterozygous inactivating mutations in the calcium-sensing receptor (CaSR) gene. This article presents a girl with heterozygous p.Cys575Tyr variation in the CaSR gene. The
Externí odkaz:
https://doaj.org/article/6afc545ffda94afa88bb8257f0092997
Autor:
Akira Sumida, Katsumi Iizuka, Takehiro Kato, Yanyan Liu, Sodai Kubota, Saki Kubota-Okamoto, Teruaki Sakurai, Toshinori Imaizumi, Yoshihiro Takahashi, Masami Mizuno, Ken Takao, Takuo Hirota, Tetsuya Suwa, Yukio Horikawa, Mayumi Yamamoto, Yusuke Seino, Atsushi Suzuki, Daisuke Yabe
Publikováno v:
BMC Endocrine Disorders, Vol 22, Iss 1, Pp 1-5 (2022)
Abstract Background Familial hypocalciuric hypercalcemia (FHH) is a rare autosomal dominant disease, which requires differential diagnosis from relatively common primary hyperparathyroidism (PHPT) in order to avoid unnecessary surgery. Case presentat
Externí odkaz:
https://doaj.org/article/b6e75128c44c4da69f5541dd36f17fda
Publikováno v:
BMC Endocrine Disorders, Vol 21, Iss 1, Pp 1-5 (2021)
Abstract Background Primary hyperparathyroidism (PHPT) and familial hypocalciuric hypercalcemia (FHH) are the most important differential diagnosis of parathyroid hormone (PTH)-dependent hypercalcemia. The clinical features of FHH and PHPT can overla
Externí odkaz:
https://doaj.org/article/6e762321191947e28b9c2ea2b9f33288
Publikováno v:
Atti della Accademia Peloritana dei Pericolanti - Classe di Scienze Medico-Biologiche, Vol 109, Iss 2, Pp 1-6 (2021)
Familial hypocalciuric hypercalcemia (FHH) is an autosomal dominant inherited disorder due to inactivating mutations in the calcium-sensing receptor (CaSR), less commonly in the G-protein subunit α11 (GNA11) or the adaptor-related protein complex 2,
Externí odkaz:
https://doaj.org/article/dfbb0ea72b49440c8655e2c0d9054986
Publikováno v:
BMC Endocrine Disorders, Vol 21, Iss 1, Pp 1-8 (2021)
Abstract Background Familial hypocalciuric hypercalcemia (FHH) is a heterogeneous autosomal-dominant disorder of calcium hemostasis that may be difficult to distinguish clinically from mild primary hyperparathyroidism. Loss-of-function mutations main
Externí odkaz:
https://doaj.org/article/c1da137934a74d85919ba1df2e61a633
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