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Quoted phrase not found in phrase index: "Bartter disease type 5"
Page 1
Diagnosis of hypokalemia: a problem-solving approach to clinical cases.
Assadi F. Assadi F. Iran J Kidney Dis. 2008 Jul;2(3):115-22. Iran J Kidney Dis. 2008. PMID: 19377223 Free article.
Metabolic acidosis with K/C ratio of 1.5 higher is often due to diabetic ketoacidosis or type 1 or type 2 distal renal tubular acidosis. ...Metabolic alkalosis with a higher K/C ratio and a normal blood pressure suggests diuretic use, Bartter syndro …
Metabolic acidosis with K/C ratio of 1.5 higher is often due to diabetic ketoacidosis or type 1 or type 2 distal renal …
Type-5 Bartter syndrome presenting with metabolic seizure in adulthood.
Hussain A, Atlani M, Goyal A, Khurana AK. Hussain A, et al. BMJ Case Rep. 2021 Feb 17;14(2):e235349. doi: 10.1136/bcr-2020-235349. BMJ Case Rep. 2021. PMID: 33597159 Free PMC article.
Bartter syndrome is a very rare and heterogeneous disease with variable age of onset and symptom severity. ...Gain of function mutations in the calcium-sensing receptor has been described in some patients with Bartter's syndrome (type- …
Bartter syndrome is a very rare and heterogeneous disease with variable age of onset and symptom severity. ...Gain of f …
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. ...Recent advances in molecular biology have shown that these diseases can be genetically clas …
Bartter syndrome (BS) and Gitelman syndrome (GS) are syndromes associated with congenital tubular dysfunction, characte …
Clinical and Genetic Spectrum of Bartter Syndrome Type 3.
Seys E, Andrini O, Keck M, Mansour-Hendili L, Courand PY, Simian C, Deschenes G, Kwon T, Bertholet-Thomas A, Bobrie G, Borde JS, Bourdat-Michel G, Decramer S, Cailliez M, Krug P, Cozette P, Delbet JD, Dubourg L, Chaveau D, Fila M, Jourde-Chiche N, Knebelmann B, Lavocat MP, Lemoine S, Djeddi D, Llanas B, Louillet F, Merieau E, Mileva M, Mota-Vieira L, Mousson C, Nobili F, Novo R, Roussey-Kesler G, Vrillon I, Walsh SB, Teulon J, Blanchard A, Vargas-Poussou R. Seys E, et al. J Am Soc Nephrol. 2017 Aug;28(8):2540-2552. doi: 10.1681/ASN.2016101057. Epub 2017 Apr 5. J Am Soc Nephrol. 2017. PMID: 28381550 Free PMC article.
Bartter syndrome type 3 is a clinically heterogeneous hereditary salt-losing tubulopathy caused by mutations of the chloride voltage-gated channel Kb gene (CLCNKB), which encodes the ClC-Kb chloride channel involved in NaCl reabsorption in the renal tubule. . …
Bartter syndrome type 3 is a clinically heterogeneous hereditary salt-losing tubulopathy caused by mutations of the chl …
Genetic causes of hypercalciuric nephrolithiasis.
Stechman MJ, Loh NY, Thakker RV. Stechman MJ, et al. Pediatr Nephrol. 2009 Dec;24(12):2321-32. doi: 10.1007/s00467-008-0807-0. Epub 2008 Apr 30. Pediatr Nephrol. 2009. PMID: 18446382 Free PMC article. Review.
Renal stone disease (nephrolithiasis) affects 3-5% of the population and is often associated with hypercalciuria. ...Thus, Bartter syndrome, an autosomal disease, is caused by mutations of the bumetanide-sensitive Na-K-Cl (NKCC2) co-transporter, …
Renal stone disease (nephrolithiasis) affects 3-5% of the population and is often associated with hypercalciuria. ...Thus, …
Adult classic Bartter syndrome: a case report with 5-year follow-up and literature review.
Jiang L, Li D, Guo Q, Li Y, Zan L, Ao R. Jiang L, et al. Endocr J. 2024 May 23;71(5):537-542. doi: 10.1507/endocrj.EJ23-0631. Epub 2024 Mar 19. Endocr J. 2024. PMID: 38508775 Free article. Review.
Bartter syndrome (BS) is a rare, inherited salt-losing renal tubular disorder characterized by secondary hyperaldosteronism, hypokalemia, hypochloremia, metabolic alkalosis, and low-to-normal blood pressure. ...A literature review showed that no homozygous mutations …
Bartter syndrome (BS) is a rare, inherited salt-losing renal tubular disorder characterized by secondary hyperaldosteronism, h …
Genetics of hypercalciuric nephrolithiasis: renal stone disease.
Stechman MJ, Loh NY, Thakker RV. Stechman MJ, et al. Ann N Y Acad Sci. 2007 Nov;1116:461-84. doi: 10.1196/annals.1402.030. Epub 2007 Sep 13. Ann N Y Acad Sci. 2007. PMID: 17872384 Review.
Renal stone disease (nephrolithiasis) affects 5% of adults and is often associated with hypercalciuria. ...Thus, Bartter syndrome, an autosomal recessive disease, is caused by mutations of the bumetanide-sensitive Na-K-Cl (NKCC2) cotransporter, …
Renal stone disease (nephrolithiasis) affects 5% of adults and is often associated with hypercalciuria. ...Thus, Bartter …
Eight novel KCNJ1 variants and parathyroid hormone overaction or resistance in 5 probands with Bartter syndrome type 2.
Zuo J, Guo W, Wang S, Lang Y, Wang S, Shi X, Zhang R, Zhao X, Han Y, Shao L. Zuo J, et al. Clin Chim Acta. 2020 Dec;511:248-254. doi: 10.1016/j.cca.2020.10.002. Epub 2020 Oct 12. Clin Chim Acta. 2020. PMID: 33058840
PURPOSE: Bartter syndrome type 2 (BS2) is an autosomal recessive renal tubular disorder, which is caused by the mutations in KCNJ1. ...RESULTS: Ten variants including eight novel ones of KCNJ1 gene were found, the most common type was missense variant. …
PURPOSE: Bartter syndrome type 2 (BS2) is an autosomal recessive renal tubular disorder, which is caused by the mutatio …
Contradiction between genetic analysis and diuretic loading test in type I Bartter syndrome: a case report.
Kuroda J, Harada R, Hamada R, Okuda Y, Yoshida Y, Hataya H, Nozu K, Iijima K, Honda M, Ishikura K. Kuroda J, et al. BMC Nephrol. 2021 Aug 30;22(1):295. doi: 10.1186/s12882-021-02497-6. BMC Nephrol. 2021. PMID: 34461850 Free PMC article.
BACKGROUND: In typical cases of Bartter syndrome (BS), assessing response to diuretics (furosemide and thiazide), hereinafter referred to as diuretic loading test, may be used to diagnose the type by detecting which part of the kidney tubule is not functionin …
BACKGROUND: In typical cases of Bartter syndrome (BS), assessing response to diuretics (furosemide and thiazide), hereinafter …
Molecular regulation of NKCC2 in the thick ascending limb.
Ares GR, Caceres PS, Ortiz PA. Ares GR, et al. Am J Physiol Renal Physiol. 2011 Dec;301(6):F1143-59. doi: 10.1152/ajprenal.00396.2011. Epub 2011 Sep 7. Am J Physiol Renal Physiol. 2011. PMID: 21900458 Free PMC article. Review.
In humans, mutations in the gene coding for NKCC2 result in decreased or absent activity characterized by severe salt and volume loss and decreased blood pressure (Bartter syndrome type 1). Opposite to Bartter's syndrome, enhanced NaCl absorptio …
In humans, mutations in the gene coding for NKCC2 result in decreased or absent activity characterized by severe salt and volume loss and de …
47 results