Gitelman syndrome: an analysis of the underlying pathophysiologic mechanisms of acid–base and electrolyte abnormalities
Sign Up to like & getrecommendations! Published in 2017 at "International Urology and Nephrology"
DOI: 10.1007/s11255-017-1653-4
Abstract: Gitelman syndrome is the most common inherited tubular disease resulting from mutations of the SLC12A3 gene that encodes the thiazide-sensitive sodium–chloride cotransporter in the early distal convoluted tubules. The review presents the underlying pathophysiologic mechanisms… read more here.
Keywords: base electrolyte; underlying pathophysiologic; mechanisms acid; acid base ... See more keywords
A novel compound heterozygous mutation of SLC12A3 gene in a Chinese pedigree with Gitelman syndrome
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DOI: 10.1007/s12020-019-02152-z
Abstract: Purpose Gitelman syndrome (GS) is an autosomal recessive renal tubular disorder characterized by salt wasting and hypokalemia resulting from loss-of-function mutations in the solute carrier family 12A3 (SLC12A3) gene encoding the thiazide-sensitive NaCl cotransporter (NCC).… read more here.
Keywords: slc12a3; slc12a3 gene; mutation slc12a3; gitelman syndrome ... See more keywords
A novel homozygous mutation (p.N958K) of SLC12A3 in Gitelman syndrome is associated with endoplasmic reticulum stress
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Endocrinological Investigation"
DOI: 10.1007/s40618-020-01329-y
Abstract: Gitelman syndrome (GS) is an autosomal recessive renal tubular disease that arises as a consequence of mutations in the SLC12A3 gene, which codes for an Na–Cl cotransporter (NCC) in distal renal tubules. This study was… read more here.
Keywords: endoplasmic reticulum; reticulum stress; mutation; gitelman syndrome ... See more keywords
Clinical and Genetic Characteristics in Patients With Gitelman Syndrome
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DOI: 10.1016/j.ekir.2018.09.015
Abstract: Introduction Gitelman syndrome (GS) is a tubulopathy exhibited by salt loss. GS cases are most often diagnosed by chance blood test. Aside from that, some cases are also diagnosed from tetanic symptoms associated with hypokalemia… read more here.
Keywords: thyroid dysfunction; stature; short stature; clinical genetic ... See more keywords
Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.
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DOI: 10.1016/j.kint.2016.09.046
Abstract: Gitelman syndrome (GS) is a rare, salt-losing tubulopathy characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. The disease is recessively inherited, caused by inactivating mutations in the SLC12A3 gene that encodes the thiazide-sensitive sodium-chloride… read more here.
Keywords: syndrome consensus; gitelman syndrome; disease; consensus guidance ... See more keywords
Novel mutations of the SLC12A3 gene in patients with Gitelman syndrome.
Sign Up to like & getrecommendations! Published in 2021 at "Scandinavian journal of clinical and laboratory investigation"
DOI: 10.1080/00365513.2021.1989715
Abstract: Mutations in the SLC12A3 gene have been reported to cause Gitelman syndrome (GS). This study aimed to investigate the genetic mutations and clinical features of patients with GS. Four pedigrees (4 GS patients and 14… read more here.
Keywords: novel mutations; mutations slc12a3; slc12a3 gene; gene ... See more keywords
MO032URINARY EXCRETION DISORDER IN 125 PATIENTS WITH GITELMAN SYNDROME
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DOI: 10.1093/ndt/gfab080.004
Abstract: Long-term oral prescription of thiazide diuretics, which can block the sodium chloride co-transporter (NCC) of the distal tubule, has been recognized to affect the function of the proximal tubule. But the underlying mechanism is largely… read more here.
Keywords: gitelman syndrome; uric acid; 125 patients; function ... See more keywords
Gitelman syndrome combined with growth hormone deficiency
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DOI: 10.1097/md.0000000000017244
Abstract: Abstract Rationale: Gitelman syndrome (GS) is a rare autosomal recessive hereditary salt-losing tubulopathy caused by loss-of-function mutations in the SLC12A3 gene. It is usually characterized by hypokalemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria. There are only… read more here.
Keywords: gitelman syndrome; growth; hormone deficiency; growth hormone ... See more keywords
The challenges of diagnosis and management of Gitelman syndrome
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DOI: 10.1111/cen.14104
Abstract: Gitelman syndrome is an inherited tubulopathy characterized by renal salt wasting from the distal convoluted tubule. Defects in the sodium chloride cotransporter (encoded by SLC12A3) underlie this autosomal recessive condition. This article focuses on the… read more here.
Keywords: management gitelman; challenges diagnosis; diagnosis management; endocrinology ... See more keywords
Novel SLC12A3 gene mutations and clinical characteristics in two pedigrees with Gitelman syndrome.
Sign Up to like & getrecommendations! Published in 2022 at "Clinical endocrinology"
DOI: 10.1111/cen.14870
Abstract: OBJECTIVE Gitelman syndrome (GS) is an autosomal recessive tubulopathy resulting from inactivating mutations in the SLC12A3 gene that encodes the thiazide-sensitive sodium-chloride cotransporter (NCC). To date, more than 500 mutations have been identified in the… read more here.
Keywords: slc12a3 gene; novel slc12a3; two pedigrees; gitelman syndrome ... See more keywords
A case to use “salt‐losing tubulopathy” instead of “Bartter/Gitelman syndrome”
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DOI: 10.1111/ped.14187
Abstract: Bartter syndrome (BS) types 1–4 and Gitelman syndrome (GS) are caused by mutations in genes that encode renal ion transporters and channels located in the thick ascending limb of Henle’s loop (TALH) and distal convoluted… read more here.
Keywords: salt losing; salt; losing tubulopathy; type ... See more keywords