Acquired Gitelman syndrome in a primary Sjögren syndrome patient with a SLC12A3 heterozygous mutation: a case report and literature review

X Gu, Z Su, M Chen, Y Xu, Y Wang - Nephrology, 2017 - Wiley Online Library
Acquired Gitelman's syndrome (GS) associated with Sjögren syndrome (SS) is rare. A 50‐
year‐old woman was admitted to our department because of nausea, acratia and sicca …

Interpreting an apoptotic corpse as anti-inflammatory involves a chloride sensing pathway

JSA Perry, S Morioka, CB Medina… - Nature Cell …, 2019 - nature.com
Apoptotic cell clearance (efferocytosis) elicits an anti-inflammatory response by phagocytes,
but the mechanisms that underlie this response are still being defined. Here, we uncover a …

Gitelman syndrome: A rare cause of seizure disorder and a systematic review

MA Shahzad, M Mukhtar, A Ahmed… - Case reports in …, 2019 - Wiley Online Library
Gitelman syndrome is one of the few inherited causes of metabolic alkalosis due to salt
losing tubulopathy. It is caused by tubular defects at the level of distal convoluted tubules …

Differential diagnosis of perinatal Bartter, Bartter and Gitelman syndromes

OF Bamgbola, Y Ahmed - Clinical kidney journal, 2021 - academic.oup.com
The common finding of hypokalemic alkalosis in several unrelated disorders may confound
the early diagnosis of salt-losing tubulopathy (SLT). Antenatal Bartter syndrome (BS) must …

Inherited, not acquired, Gitelman syndrome in a patient with Sjögren's syndrome: importance of genetic testing to distinguish the two forms

E Mishima, T Mori, E Sohara, S Uchida, T Abe, S Ito - CEN Case Reports, 2017 - Springer
Gitelman syndrome (GS) is an autosomal recessive, salt-losing renal tubulopathy caused by
mutations in the SLC12A3 gene; however, it can also be acquired in patients with …

Autoimmune Tubulopathies

P Houillier, C Prot-Bertoye - Journal of the American Society of …, 2024 - journals.lww.com
The renal tubule and collecting duct express a large number of proteins, all having putative
immunoreactive motives. Therefore, all can be the target of pathogenic autoantibodies …

Idiopathic hypokalemia in lupus nephritis: A newly recognized entity

EA Adomako, S Bilal, Y Liu, A Malik, PN Van Buren… - Kidney360, 2021 - journals.lww.com
Background Various causes of hypokalemia (HK) from renal potassium wasting, including
distal renal tubular acidosis (RTA), have been described in lupus nephritis (LN). We report a …

[HTML][HTML] Novel heterozygous missense mutation of SLC12A3 gene in Gitelman syndrome: A case report

CL Wang - World journal of clinical cases, 2019 - ncbi.nlm.nih.gov
Novel heterozygous missense mutation of SLC12A3 gene in Gitelman syndrome: A case report
- PMC Back to Top Skip to main content NIH NLM Logo Access keys NCBI Homepage MyNCBI …

Bartter syndrome representing digenic-based salt-losing tubulopathies presumably accelerated by renal insufficiency

R Umene, M Kitamura, H Arai, K Matsumura… - CEN Case Reports, 2020 - Springer
Bartter syndrome and Gitelman syndrome (GS) are autosomal recessive disorders usually
caused by homozygous or compound heterozygous mutations in causative genes. In some …

Acquired renal glucosuria in an undifferentiated connective tissue disease patient with a SLC5A2 heterozygous mutation: A case report

X Gu, M Chen, Y Xu, Y Wang - Medicine, 2018 - journals.lww.com
Introduction: Renal glucosuria is a renal tubular disorder caused by genetic conditions,
drugs, and poisons. Mutations in the SLC5A2 gene are recently found to be responsible for …