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[From gene to disease; mutations in the SLC12A3 gene as the cause of Gitelman's syndrome]. [PDF]

Nederlands tijdschrift voor geneeskunde, 2005
Contains fulltext : 47957.pdf (Publisher’s version ) (Open Access)
Cornelissen, E.A.M., Bindels, R.J.M., Hoefsloot, L.H., Knoers, N.V.A.M.   +3 more
core   +6 more sources

Unmasking of a Heterozygous <i>SLC12A3</i> Variant. [PDF]

Kidney Med
Three months after starting 25 mg chlorthalidone, a patient was admitted to the medical intensive care unit to manage hypokalemia, metabolic alkalosis, hypo-osmolar hyponatremia, hyperglycemia, and 30 lb weight loss. The patient received ∼936 mEq potassium over 8 days, of which 456 mEq was administered during the first 2 days of admission. In the first
Xu C, Greenberg P, Bachan M, Rohatgi R.
europepmc   +3 more sources

Novel heterozygous mutation of SLC12A3 gene in Gitelman syndrome [PDF]

QJM: An International Journal of Medicine, 2021
Background Gitelman syndrome (GS) is an autosomal recessive disease primarily caused by mutations in the SLC12A3 gene, characterized by the hypokalaemic metabolic alkalosis with hypomagnesemia. Here, we investigated the mutation of SLC12A3 gene in a Chinese pedigree with GS and analyzed the clinical manifestations.
T Wang, Y Chen, X Yin, H Qiu
openaire   +2 more sources

Urine electrolytes guide treatment of Gitelman syndrome and recurrent syncope-A case report. [PDF]

Physiol Rep
Abstract Syncope is a common reason for inpatient admission. Few case studies describe an association between syncope and Gitelman syndrome (GS). Herein, we present a case of a woman with hypokalemia and recurrent syncope which eventually led to a diagnosis of GS. A physiologic approach to urine electrolyte interpretation informed clinical decisions to
Agrawal S, Fifer KM, Farouk SS, Rein JL.
europepmc   +2 more sources

Allele-specific RT-PCR for the rapid detection of recurrent SLC12A3 mutations for Gitelman syndrome

npj Genomic Medicine, 2021
Recurrent mutations in the SLC12A3 gene responsible for autosomal recessive Gitelman syndrome (GS) are frequently reported, but the exact prevalence is unknown.
Ming-Tso Yan, Sung-Sen Yang, Min-Hua Tseng, Chih-Jen Cheng, Jeng-Daw Tsai, Chih-Chien Sung, Yu-Juei Hsu, Shih-Hua Lin   +7 more
doaj   +1 more source

HIV-1 Vpr suppresses expression of the thiazide-sensitive sodium chloride co-transporter in the distal convoluted tubule.

PLoS ONE, 2022
HIV-associated nephropathy (HIVAN) impairs functions of both glomeruli and tubules. Attention has been previously focused on the HIVAN glomerulopathy. Tubular injury has drawn increased attention because sodium wasting is common in hospitalized HIV/AIDS ...
Shashi Shrivastav, Hewang Lee, Koji Okamoto, Huiyan Lu, Teruhiko Yoshida, Khun Zaw Latt, Hidefumi Wakashin, James L T Dalgleish, Erik H Koritzinsky, Peng Xu, Laureano D Asico, Joon-Yong Chung, Stephen Hewitt, John J Gildea, Robin A Felder, Pedro A Jose, Avi Z Rosenberg, Mark A Knepper, Tomoshige Kino, Jeffrey B Kopp   +19 more
doaj   +2 more sources

The First Korean Case of SLC12A3 Aberrant Skipping of Two Exons Detected by RNA Splicing Analysis

Case Reports in Nephrology and Dialysis, 2021
Gitelman syndrome is a salt-losing tubular disorder that is transmitted as an autosomal recessive trait. Variants in the SLC12A3 gene are found in the majority of Gitelman syndrome patients. A 26-year-old woman visited the genetic counseling clinic.
Kiwoong Ko, Jong-Won Kim
doaj   +1 more source

A novel mutation of SLC12A3 gene causing Gitelman syndrome

SAGE Open Medical Case Reports, 2022
A 48-year-old patient with a history of diabetes mellitus, presented to a surgical ward with abdominal pain. She was found to have hypokalemia. Her younger sister had passed away due to sudden cardiac death at the age of 25 years. Further evaluation revealed an elevated trans-tubular potassium gradient suggestive of renal potassium loss, normal blood ...
Neomal De Silva, Sivatharshya Pathmanathan, Manilka Sumanatilleke, Chinthana Dematapitiya, Preethi Dissanayake, Umesha Wijenayake, Vindya Subasinghe, Vajira Dissanayake   +7 more
openaire   +2 more sources

Gitelman Syndrome Presenting With Syncope and Treatment-Refractory Hypokalemia in A Young Woman: A Case Report. [PDF]

Clin Case Rep
ABSTRACT Gitelman syndrome (GS) is a rare autosomal recessive tubulopathy characterized by hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria. A 27‐year‐old woman presented with a witnessed syncopal episode, progressive weakness, and nausea.
Melkie IS, Wolde AA, Mengesha LY, Kinfe RA, Mengistie CT, Gubai ZY.   +5 more
europepmc   +2 more sources

Two Brothers from Macedonia with Gitelman Syndrome

Balkan Journal of Medical Genetics, 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.
Janchevska A, Tasic V, Jordanova O, Gucev Z, Jenkins L, Jovanovska N, Plaseska-Karanfilska D, Ashton E, Bockenhauer D   +8 more
doaj   +1 more source