Chronic renal failure in a boy with classic Bartter’s syndrome due to a novel mutation in CLCNKB coding for the chloride channel

2008 ◽  
Vol 168 (9) ◽  
pp. 1129-1133 ◽  
Author(s):  
Chien-Ming Lin ◽  
Jeng-Daw Tsai ◽  
Yi-Fen Lo ◽  
Ming-Tso Yan ◽  
Sung-Sen Yang ◽  
...  
Keyword(s):  
Renal Failure ◽  
Chronic Renal Failure ◽  
Chloride Channel ◽  
Novel Mutation ◽  
Bartter’S Syndrome ◽  
Bartter's Syndrome

scholarly journals A pediatric case of kidney transplantation in Bartter's syndrome with end-stage renal failure

2007 ◽  
Vol 40 (7) ◽  
pp. 623-627
Author(s):  
Yoshitaka Sekine ◽  
Motoaki Hatori ◽  
Tomoyuki Takei ◽  
Bunzo Kashiwagi ◽  
Tomohiro Magari ◽  
...  
Keyword(s):  
Renal Failure ◽  
Kidney Transplantation ◽  
Bartter’S Syndrome ◽  
Bartter's Syndrome ◽  
Pediatric Case ◽  
End Stage Renal Failure ◽  
End Stage

Screening for Fabry disease in patients undergoing dialysis for chronic renal failure in Turkey: Identification of new case with novel mutation

Gene ◽  
2013 ◽  
Vol 527 (1) ◽  
pp. 42-47 ◽  
Author(s):  
Ilyas Okur ◽  
Fatih Ezgu ◽  
Gursel Biberoglu ◽  
Leyla Tumer ◽  
Yasemin Erten ◽  
...  
Keyword(s):  
Renal Failure ◽  
Chronic Renal Failure ◽  
Fabry Disease ◽  
Novel Mutation

scholarly journals A Case Report and Literature Review of a Novel Mutation in the MAGED2 Gene of a Patient With Severe Transient Polyhydramnios

2021 ◽  
Vol 9 ◽  
Author(s):  
Xiaoxia Wu ◽  
Le Huang ◽  
Caiqun Luo ◽  
Yang Liu ◽  
Jianmin Niu
Keyword(s):  
Clinical Characteristics ◽  
Frameshift Mutation ◽  
Novel Mutation ◽  
Bartter’S Syndrome ◽  
Bartter's Syndrome ◽  
Case Presentation ◽  
New Novel ◽  
Novel Variant ◽  
Antenatal Bartter’S Syndrome

Background: Polyhydramnios occurs frequently during pregnancy. Mutations in the MAGED2 gene can cause X-linked acute early-onset polyhydramnios with a severe but transient form of antenatal Bartter's syndrome.Case Presentation: Here, we report a new novel frameshift mutation c.733_734delCT (p. Leu245GlufsTer4) in the MAGED2 gene (NM_177433.1) that caused prenatal polyhydramnios, but did not cause polyuria after birth. Follow-up was conducted for 2 months, and the baby's growth and development were normal, without polyuria and renal impairment. In addition, we identified all individuals with MAGED2 mutations reported in the literature before March 2021.Conclusion: We report a new case with a novel variant of the MAGED2 gene that caused severe hydramnios but with a good result and summary clinical characteristics in a newborn with antenatal Bartter's syndrome caused by an MAGED2 mutation. Good prenatal diagnosis and genetic consultation can improve pregnancy monitoring and newborn management.

Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III

1997 ◽  
Vol 17 (2) ◽  
pp. 171-178 ◽  
Author(s):  
David B. Simon ◽  
Ranjit S. Bindra ◽  
Traci A. Mansfield ◽  
Carol Nelson-Williams ◽  
Erica Mendonca ◽  
...  
Keyword(s):  
Chloride Channel ◽  
Syndrome Type ◽  
Bartter’S Syndrome ◽  
Bartter's Syndrome ◽  
Type Iii ◽  
Channel Gene
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