Atypical phenotype of type I Bartter syndrome accompanied by focal segmental glomerulosclerosis-Reference-Cited by-同舟云学术

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Atypical phenotype of type I Bartter syndrome accompanied by focal segmental glomerulosclerosis

Published:2009-02 Issue:2 Volume:24 Page:415-418
ISSN:0931-041X
Container-title:Pediatric Nephrology
language:en
Short-container-title:Pediatr Nephrol

Author:

Yamazaki Hajime,Nozu Kandai,Narita Ichiei,Nagata Michio,Nozu Yoshimi,Fu Xue Jun,Matsuo Masafumi,Iijima Kazumoto,Gejyo Fumitake

Publisher

Springer Science and Business Media LLC

Subject

Nephrology,Pediatrics, Perinatology, and Child Health

Link

http://link.springer.com/content/pdf/10.1007/s00467-008-0999-3.pdf

Reference15 articles.

1. Simon DB, Karet FE, Hamdan JM, DiPietro A, Sanjad SA, Lifton RP (1996) Bartter’s syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. Nat Genet 13:183–188

2. Simon DB, Karet FE, Rodriguez-Soriano J, Hamdan JH, DiPietro A, Trachtman H, Sanjad SA, Lifton RP (1996) Genetic heterogeneity of Bartter’s syndrome revealed by mutations in the K channel, ROMK. Nat Genet 14:152–156

3. Simon DB, Bindra RS, Mansfield TA, Nelson-Williams C, Mendonca E, Stone R, Schurman S, Nayir A, Alpay H, Bakkaloglu A, Rodriguez-Soriano J, Morales JM, Sanjad SA, Taylor CM, Pilz D, Brem A, Trachtman H, Griswold W, Richard GA, John E, Lifton RP (1997) Mutations in the chloride channel gene, CLCNKB, cause Bartter’s syndrome type III. Nat Genet 17:171–178

4. Birkenhager R, Otto E, Schurmann MJ, Vollmer M, Ruf EM, Maier-Lutz I, Beekmann F, Fekete A, Omran H, Feldmann D, Milford DV, Jeck N, Konrad M, Landau D, Knoers NV, Antignac C, Sudbrak R, Kispert A, Hildebrandt F (2001) Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. Nat Genet 29:310–314

5. Blethen SL, Van Wyk JJ, Lorentz WB, Jennette JC (1985) Reversal of Bartter’s syndrome by renal transplantation in a child with focal, segmental glomerular sclerosis. Am J Med Sci 289:31–36

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1. The biogenesis of potassium transporters: implications of disease-associated mutations;Critical Reviews in Biochemistry and Molecular Biology;2024-07

2. Protein Quality Control of NKCC2 in Bartter Syndrome and Blood Pressure Regulation;Cells;2024-05-10

3. Novel SLC12A1 mutations cause Bartter syndrome in two patients with different prognoses;Clinica Chimica Acta;2022-06

4. Contradiction between genetic analysis and diuretic loading test in type I Bartter syndrome: a case report;BMC Nephrology;2021-08-30

5. Two novel mutations in theCLCNKBgene leading to classic Bartter syndrome presenting as syncope and hypertension in a 13-year-old boy;BMJ Case Reports;2020-07

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