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Bartter and Gitelman syndromes.
Zieg J, Doležel Z. Zieg J, et al. Cas Lek Cesk. 2022 Summer;161(3-4):131-134. Cas Lek Cesk. 2022. PMID: 36100451 Review. English.
Bartter and Gitelman syndromes belong to salt-losing tubulopathies. ...
Bartter and Gitelman syndromes belong to salt-losing tubulopathies. ...
Nephrogenic diabetes insipidus.
Bockenhauer D, Bichet DG. Bockenhauer D, et al. Curr Opin Pediatr. 2017 Apr;29(2):199-205. doi: 10.1097/MOP.0000000000000473. Curr Opin Pediatr. 2017. PMID: 28134709 Review.
RECENT FINDINGS: MAGED2 mutations caused X-linked polyhydramnios with prematurity and a severe but transient form of antenatal Bartter's syndrome.We distinguish two types of hereditary NDI: a 'pure' type with loss of water only and a complex type with …
RECENT FINDINGS: MAGED2 mutations caused X-linked polyhydramnios with prematurity and a severe but transient form of antenatal Bartter …
Diseases associated with calcium-sensing receptor.
Vahe C, Benomar K, Espiard S, Coppin L, Jannin A, Odou MF, Vantyghem MC. Vahe C, et al. Orphanet J Rare Dis. 2017 Jan 25;12(1):19. doi: 10.1186/s13023-017-0570-z. Orphanet J Rare Dis. 2017. PMID: 28122587 Free PMC article. Review.
Hypocalcemia disorders, which are more rare, are related to heterozygous activating mutations of the CASR gene (type 1), consisting of autosomal dominant hypocalcemia disorders, sometimes with a presentation of pseudo-Bartter's syndrome. The differential diag …
Hypocalcemia disorders, which are more rare, are related to heterozygous activating mutations of the CASR gene (type 1), consisting o …
Inherited salt-losing tubulopathy: An old condition but a new category of tubulopathy.
Nozu K, Yamamura T, Horinouchi T, Nagano C, Sakakibara N, Ishikura K, Hamada R, Morisada N, Iijima K. Nozu K, et al. Pediatr Int. 2020 Apr;62(4):428-437. doi: 10.1111/ped.14089. Epub 2020 Apr 13. Pediatr Int. 2020. PMID: 31830341 Review.
Bartter syndrome (BS) and Gitelman syndrome (GS) are syndromes associated with congenital tubular dysfunction, characterized by hypokalemia and metabolic alkalosis. Clinically, BS is classified into two types: the severe antenatal/neonatal type, which …
Bartter syndrome (BS) and Gitelman syndrome (GS) are syndromes associated with congenital tubular dysfunction, characte …
New perspective of ClC-Kb/2 Cl- channel physiology in the distal renal tubule.
Zaika O, Tomilin V, Mamenko M, Bhalla V, Pochynyuk O. Zaika O, et al. Am J Physiol Renal Physiol. 2016 May 15;310(10):F923-30. doi: 10.1152/ajprenal.00577.2015. Epub 2016 Jan 20. Am J Physiol Renal Physiol. 2016. PMID: 26792067 Free PMC article. Review.
Since its identification as the underlying molecular cause of Bartter's syndrome type 3, ClC-Kb (ClC-K2 in rodents, henceforth it will be referred as ClC-Kb/2) is proposed to play an important role in systemic electrolyte balance and blood pressure reg …
Since its identification as the underlying molecular cause of Bartter's syndrome type 3, ClC-Kb (ClC-K2 in rodents, hen …
Understanding Bartter syndrome and Gitelman syndrome.
Fremont OT, Chan JC. Fremont OT, et al. World J Pediatr. 2012 Feb;8(1):25-30. doi: 10.1007/s12519-012-0333-9. Epub 2012 Jan 27. World J Pediatr. 2012. PMID: 22282380 Review.
CONCLUSIONS: Patients with Bartter syndrome types 1, 2 and 4 present at a younger age than classic Bartter syndrome type 3. They present with symptoms, often quite severe in the neonatal period. Patients with classic Bartter syn …
CONCLUSIONS: Patients with Bartter syndrome types 1, 2 and 4 present at a younger age than classic Bartter sy …
Na+-K+-2Cl- cotransporter type 2 trafficking and activity: the role of interacting proteins.
Carmosino M, Procino G, Svelto M. Carmosino M, et al. Biol Cell. 2012 Apr;104(4):201-12. doi: 10.1111/boc.201100049. Epub 2012 Jan 26. Biol Cell. 2012. PMID: 22211456 Review.
The central role of Na+-K+-2Cl- cotransporter type 2 (NKCC2) in vectorial transepithelial salt reabsorption in thick ascending limb cells from Henle's loop in the kidney is evidenced by the effects of loop diuretics, the pharmacological inhibitors of NKCC2, that are …
The central role of Na+-K+-2Cl- cotransporter type 2 (NKCC2) in vectorial transepithelial salt reabsorption in thick ascending …
ClC-K chloride channels: emerging pathophysiology of Bartter syndrome type 3.
Andrini O, Keck M, Briones R, Lourdel S, Vargas-Poussou R, Teulon J. Andrini O, et al. Am J Physiol Renal Physiol. 2015 Jun 15;308(12):F1324-34. doi: 10.1152/ajprenal.00004.2015. Epub 2015 Mar 25. Am J Physiol Renal Physiol. 2015. PMID: 25810436 Free article. Review.
The mutations in the CLCNKB gene encoding the ClC-Kb chloride channel are responsible for Bartter syndrome type 3, one of the four variants of Bartter syndrome in the genetically based nomenclature. All forms of Bartter syndrome ar …
The mutations in the CLCNKB gene encoding the ClC-Kb chloride channel are responsible for Bartter syndrome type 3, one …
NKCC1: Newly Found as a Human Disease-Causing Ion Transporter.
Koumangoye R, Bastarache L, Delpire E. Koumangoye R, et al. Function (Oxf). 2021;2(1):zqaa028. doi: 10.1093/function/zqaa028. Epub 2020 Nov 3. Function (Oxf). 2021. PMID: 33345190 Free PMC article. Review.
The closely related SLC12A transporters, NKCC2 and NCC have been identified some 25 years ago as responsible for Bartter and Gitelman syndromes: two renal-dependent salt wasting disorders. Absence of disease was most surprising since the NKCC1 knockout mouse was sho …
The closely related SLC12A transporters, NKCC2 and NCC have been identified some 25 years ago as responsible for Bartter and Gitelman …
Postprandial hypoglycemia after gastric bypass surgery: from pathogenesis to diagnosis and treatment.
Honka H, Salehi M. Honka H, et al. Curr Opin Clin Nutr Metab Care. 2019 Jul;22(4):295-302. doi: 10.1097/MCO.0000000000000574. Curr Opin Clin Nutr Metab Care. 2019. PMID: 31082828 Free PMC article. Review.
PURPOSE OF REVIEW: The Roux-en-Y gastric bypass surgery (RYGB) improves glucose control in majority of patients with type 2 diabetes. However, a minority group of individuals develop a life-threatening complication of hyperinsulinemic hypoglycemia. ...The exaggerate …
PURPOSE OF REVIEW: The Roux-en-Y gastric bypass surgery (RYGB) improves glucose control in majority of patients with type 2 di …
24 results