Zobrazeno 1 - 10
of 736
pro vyhledávání: '"Hypocalciuria"'
Autor:
Janchevska A, Tasic V, Jordanova O, Gucev Z, Jenkins L, Jovanovska N, Plaseska-Karanfilska D, Ashton E, Bockenhauer D
Publikováno v:
Balkan Journal of Medical Genetics, Vol 26, Iss 1, Pp 69-74 (2023)
Gitelman syndrome (GS) is a rare renal tubulopathy with an autosomal recessive mode of inheritance, caused by biallelic pathogenic variants in the SLC12A3 gene. The clinical features may overlap with other disorders, such as Bartter syndrome type 3,
Externí odkaz:
https://doaj.org/article/0f5cbda263c342cc9776873b4f80254c
Autor:
Alejandro García-Castaño, Leire Madariaga, Sara Gómez-Conde, Pedro González, Gema Grau, Itxaso Rica, Gustavo Pérez de Nanclares, Ana Belén De la Hoz, Aníbal Aguayo, Rosa Martínez, Inés Urrutia, Sonia Gaztambide, Calcium Phosphorus Metabolism Molecular Biology Group, Luis Castaño
Publikováno v:
Frontiers in Endocrinology, Vol 15 (2024)
IntroductionThe disorders in the metabolism of calcium can present with manifestations that strongly suggest their diagnosis; however, most of the time, the symptoms with which they are expressed are nonspecific or present only as a laboratory findin
Externí odkaz:
https://doaj.org/article/51578622940e427eba478d487f7ac7a3
Autor:
Andrea Bezzeccheri, Gianluca Di Giovanni, Martina Belli, Rocco Mollace, Lucy Barone, Massimiliano Macrini, Alessio Di Landro, Saverio Muscoli
Publikováno v:
Reviews in Cardiovascular Medicine, Vol 23, Iss 8, p 289 (2022)
Gitelman syndrome (GS), or congenital hypokalemic hypomagnesemia hypocalciuria with metabolic alkalosis, is a congenital inherited tubulopathy. This tubulopathy is associated with disorders of water-electrolyte homeostasis, such as metabolic alkalosi
Externí odkaz:
https://doaj.org/article/8b816bdd19964bfe8f39b1edb94a720c
Akademický článek
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Publikováno v:
Počki, Vol 5, Iss 3.13, Pp 9-20 (2015)
Gitelman syndrome (OMIM #263800) is an autosomal recessive renal tubular disorder due to loss of function mutations of SLC12A3 gene, encoding the thiazide-inhibitable, electroneutral Na+-Cl– cotransporter (NCC) of the distal convoluted tubule. Clin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6bccc35c798b477906a01aac2e884164
https://doi.org/10.22141/2307-1257.0.3.13.2015.74915
https://doi.org/10.22141/2307-1257.0.3.13.2015.74915
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
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Publikováno v:
European Journal of Case Reports in Internal Medicine (2019)
Gitelman syndrome is a rare renal tubule disease characterized by hypokalaemia, metabolic alkalosis, hypomagnesaemia, hypocalciuria and normal blood pressure. It shows autosomal recessive inheritance and is usually not diagnosed until late childhood
Externí odkaz:
https://doaj.org/article/daad4fe1d1dd46d39f6e4ec688c462b0
Autor:
Xiaoyan Peng, Bingbin Zhao, Lei Zhang, Lanping Jiang, Tao Yuan, Ying Wang, Haiyun Wang, Jie Ma, Naishi Li, Ke Zheng, Min Nie, Xuemei Li, Xiaoping Xing, Limeng Chen
Publikováno v:
Frontiers in Endocrinology, Vol 9 (2018)
Traditional clinical diagnostic criteria for Gitelman syndrome (GS) including hypomagnesemia and hypocalciuria have been challenged by reports of atypical manifestations recently, as well as the development of genetic testing. Hydrochlorothiazide (HC
Externí odkaz:
https://doaj.org/article/722ae9d6706147d980372ec78f97fa4c
Autor:
Ratna Acharya, Kiran Upadhyay
Publikováno v:
Pediatric Reports, Vol 13, Iss 75, Pp 632-638 (2021)
Pediatric Reports
Pediatric Reports
Background. Gitelman syndrome (GS) is an inherited salt-losing renal tubulopathy characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. Patients can be asymptomatic until late adolescence or adulthood, and hence may b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99ae0e589d0c1bd929175dd43e955ab1
https://www.mdpi.com/2036-7503/13/4/75
https://www.mdpi.com/2036-7503/13/4/75
Publikováno v:
Počki, Vol 5, Iss 3.13, Pp 9-20 (2015)
Gitelman syndrome (OMIM #263800) is an autosomal recessive renal tubular disorder due to loss of function mutations of SLC12A3 gene, encoding the thiazide-inhibitable, electroneutral Na+-Cl– cotransporter (NCC) of the distal convoluted tubule. Clin
Externí odkaz:
https://doaj.org/article/300bc1b3d3c84b25873e6cf69d04c81f