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Published on Jul 1, 2019in Physiological Reviews 24.25
Jenny van der Wijst8
Estimated H-index: 8
,
Hendrica Belge7
Estimated H-index: 7
+ 1 AuthorsOlivier Devuyst61
Estimated H-index: 61
The identification of genes causing inherited kidney diseases yielded crucial insights in the molecular basis of disease and improved our understanding of physiological processes that operate in th...
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Published on May 12, 2017in Genes 3.33
Shiki Fujino3
Estimated H-index: 3
,
Norikatsu Miyoshi15
Estimated H-index: 15
+ 7 AuthorsMasaki Mori87
Estimated H-index: 87
A woman with rectal cancer was scheduled for surgery. However, she also had hypokalemia, hyperreninemia, and hyperaldosteronism in the absence of any known predisposing factors or endocrine tumors. She was given intravenous potassium, and her blood abnormalities stabilized after tumor resection. Genetic analysis revealed mutations in several genes associated with Bartter syndrome (BS) and Gitelman syndrome, including SLC12A1, CLCNKB, CASR, SLC26A3, and SLC12A3. Prostaglandin E2 (PGE2) plays an i...
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Published on Jan 1, 2017in Acta Paediatrica 2.27
Anders Breinbjerg1
Estimated H-index: 1
(Aarhus University Hospital),
Charlotte Siggaard Rittig3
Estimated H-index: 3
(Aarhus University Hospital)
+ 2 AuthorsJane Christensen43
Estimated H-index: 43
(AU: Aarhus University)
Aim Bartter syndrome is an autosomal recessive inherited disease in which patients present with hypokalaemia and metabolic alkalosis. We present two apparently non-related cases with antenatal Bartter syndrome type I, due to a novel variant in the SLC12A1 gene encoding the bumetanide-sensitive sodium-(potassium)-chloride cotransporter 2 in the thick ascending limb of the loop of Henle. Methods Blood samples were received from the two cases and 19 of their relatives and deoxyribonucleic acid was ...
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Published on Jan 1, 2017
Olivier Devuyst61
Estimated H-index: 61
(UZH: University of Zurich),
Takashi Igarashi42
Estimated H-index: 42
Renal Fanconi syndrome is characterized by a generalized dysfunction of the proximal renal tubule and a metabolic bone disease (rickets or osteomalacia). Renal Fanconi syndrome is associated with various inherited tubulopathies and inborn errors of metabolism, immunological, or hematological disorders, and through exposure to various toxic agents. Dent disease (X-linked recessive nephrolithiasis, or X-linked recessive hypercalciuric hypophosphatemic rickets) is a renal tubular disorder caused by...
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Published on Sep 1, 2016in Clinical Case Reports
Myriam L. Rachid , Sophie Dreux15
Estimated H-index: 15
+ 5 AuthorsFrançoise Muller34
Estimated H-index: 34
Bartter syndrome is a severe inherited tubulopathy responsible for renal salt wasting. It is caused by alterations in ion channels located in the thick ascending limb of Henle's loop. Five mutations in four genes – SLC12A1, KCNJ1, CLCNKB, and BSND – coding for transporters and one specific mutation (L125Q) in the CASR gene, which encodes the calcium‐sensing receptor, have been identified 1, 2. First described in 1962 3, two presentations are currently recognized. The classic form develops in chi...
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Published on Jan 1, 2016in Prenatal Diagnosis 2.43
Myriam Rachid , Sophie Dreux15
Estimated H-index: 15
+ 6 AuthorsFrançoise Muller34
Estimated H-index: 34
Objective Bartter syndrome is a severe inherited tubulopathy characterized by postnatal salt wasting, severe polyuria, dehydration, failure to thrive and secondary hyperaldosteronism. Prenatally, the disease is usually discovered following the onset of severe polyhydramnios in the second trimester. We studied amniotic fluid aldosterone concentration in Bartter syndrome and in controls. Methods Amniotic fluid aldosterone was assayed by radioimmunoassay. We undertook a retrospective case-control s...
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Published on Nov 1, 2015
Olivier Devuyst61
Estimated H-index: 61
,
Hendrica Belge7
Estimated H-index: 7
+ 6 AuthorsNorishige Yoshikawa41
Estimated H-index: 41
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Published on Jan 1, 2015
Bartter syndrome is a rare renal tubulopathy first described by Frederic Bartter in 1962. The primary pathogenic mechanism is defective transepithelial chloride reabsorption in the thick ascending limb of loop of Henle (TALH). The disease is characterized by hypokalemia, metabolic alkalosis, and secondary hyperaldosteronism with normal to low blood pressure due to renal loss of sodium and hyperplasia of of Bartter syndrome are antenatal bartter syndr antenatal bartter syndrome. Bartter syndrome ...
Published on Nov 1, 2014in American Journal of Physiology-renal Physiology 3.32
Hayo Castrop25
Estimated H-index: 25
(University of Regensburg),
Ina Maria Schießl7
Estimated H-index: 7
(University of Regensburg)
The Na-K-2Cl cotransporter (NKCC2; BSC1) is located in the apical membrane of the epithelial cells of the thick ascending limb of the loop of Henle (TAL). NKCC2 facilitates ∼20–25% of the reuptake of the total filtered NaCl load. NKCC2 is therefore one of the transport proteins with the highest overall reabsorptive capacity in the kidney. Consequently, even subtle changes in NKCC2 transport activity considerably alter the renal reabsorptive capacity for NaCl and eventually lead to perturbations ...
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