scholarly journals Transient Antenatal Bartter’s Syndrome: A Case Report

2018 ◽  
Vol 6 ◽  
Author(s):  
Michelle Meyer ◽  
Margarita Berrios ◽  
Christina Lo
Keyword(s):  
Case Report ◽  
Bartter’S Syndrome ◽  
Bartter's Syndrome ◽  
Antenatal Bartter’S Syndrome

Case Report: Familial Growth Hormone Deficiency Associated with Bartter’s Syndrome

1992 ◽  
Vol 303 (6) ◽  
pp. 411-414 ◽  
Author(s):  
Rogelio H.A. Ruvalcaba ◽  
Fredy E. Martinez
Keyword(s):  
Growth Hormone ◽  
Case Report ◽  
Growth Hormone Deficiency ◽  
Hormone Deficiency ◽  
Bartter’S Syndrome ◽  
Bartter's Syndrome

scholarly journals Neonatal Pseudo-Bartter's Syndrome with Hypokalemia and ECG Changes Born to a Mother with Eating Disorder: A Case Report

2017 ◽  
Vol 66 (2) ◽  
pp. 153-158
Author(s):  
Yuko AKUTSU ◽  
Yuya HIGASHI ◽  
Yukako NAGAYOSHI ◽  
Manabu SUGIE ◽  
Tsutomu KONDO ◽  
...  
Keyword(s):  
Eating Disorder ◽  
Case Report ◽  
Bartter’S Syndrome ◽  
Bartter's Syndrome ◽  
Ecg Changes

scholarly journals ADULT VARIANT BARTTER’S SYNDROME- A CASE REPORT

2017 ◽  
Vol 4 (16) ◽  
pp. 951-953
Author(s):  
Ishwar Sidappa Hasabi ◽  
Mahabaleshwar Mamadapur ◽  
Chandrashekar Kachapur ◽  
Sitaram N ◽  
Kalinga B.E
Keyword(s):  
Case Report ◽  
Bartter’S Syndrome ◽  
Bartter's Syndrome

scholarly journals A common NKCC2 mutation in Costa Rican Bartter's syndrome patients: evidence for a founder effect.

1997 ◽  
Vol 8 (11) ◽  
pp. 1706-1711 ◽  
Author(s):  
C L Kurtz ◽  
L Karolyi ◽  
H W Seyberth ◽  
M C Koch ◽  
R Vargas ◽  
...  
Keyword(s):  
Mutant Allele ◽  
Common Ancestor ◽  
Costa Rican ◽  
Bartter’S Syndrome ◽  
Bartter's Syndrome ◽  
Renal Tubular Disorders ◽  
Genes Encoding ◽  
Renal Tubular ◽  
Distinct Features ◽  
Antenatal Bartter’S Syndrome

Bartter's syndrome involves an overlapping set of closely related renal tubular disorders that can be subdivided into at least three clinical phenotypes: (1) the hypercalciuric antenatal Bartter variant; (2) the classic Bartter variant; and (3) the hypocalciuric-hypomagnesemic Gitelman variant. Recent data demonstrate that in several phenotypically indistinguishable cohorts, antenatal Bartter's syndrome is genetically heterogeneous. In these patients, mutations in the genes encoding either the bumetanide-sensitive Na-K-2Cl cotransporter (NKCC2) or the ATP-regulated potassium channel ROMK (KCNJI) have been identified. A cohort of 20 Costa Rican patients with a congenital syndrome that bears strong similarities to antenatal Bartter's syndrome but also has several distinct features has recently been described. In this cohort, we have identified a predominant mutation that introduces a premature stop in codon W625 of the NKCC2 gene (SCL12A1). This mutant allele is contained on a single common haplotype, suggesting that the majority of antenatal Bartter's syndrome patients in Costa Rica share a single common ancestor.

Pregnancy Complicated with Bartter's Syndrome: A Case Report

2001 ◽  
Vol 27 (5) ◽  
pp. 267-274 ◽  
Author(s):  
Tomoyoshi Nohira ◽  
Toshihide Nakada ◽  
Osamu Akutagawa ◽  
Atsuya Fujito ◽  
Kazuhiro Okabe ◽  
...  
Keyword(s):  
Case Report ◽  
Bartter’S Syndrome ◽  
Bartter's Syndrome

scholarly journals A case report of Bartter's syndrome associated with possible pseudohypoparathyroidism type II.

1987 ◽  
Vol 76 (4) ◽  
pp. 549-552
Author(s):  
Hirofumi SHIGETA ◽  
Naohiro TASAKI ◽  
Seiji KITAZUMI ◽  
Yoshihiro KITAGAWA ◽  
Takahiro KANATSUNA ◽  
...  
Keyword(s):  
Case Report ◽  
Type Ii ◽  
Bartter’S Syndrome ◽  
Bartter's Syndrome ◽  
Pseudohypoparathyroidism Type Ii

Bartter's Syndrome in Pregnancy: A Case Report and Review

1997 ◽  
Vol 14 (01) ◽  
pp. 55-57 ◽  
Author(s):  
Erin O'Sullivan ◽  
Manju Monga ◽  
William Graves
Keyword(s):  
Case Report ◽  
Bartter’S Syndrome ◽  
Bartter's Syndrome ◽  
In Pregnancy

scholarly journals Polyhydramnios, Transient Antenatal Bartter’s Syndrome, andMAGED2Mutations

2016 ◽  
Vol 374 (19) ◽  
pp. 1853-1863 ◽  
Author(s):  
Kamel Laghmani ◽  
Bodo B. Beck ◽  
Sung-Sen Yang ◽  
Elie Seaayfan ◽  
Andrea Wenzel ◽  
...  
Keyword(s):  
Bartter’S Syndrome ◽  
Bartter's Syndrome ◽  
Antenatal Bartter’S Syndrome

scholarly journals A novel MAGED2 variant in a Chinese preterm newborn with transient antenatal Bartter’s syndrome with 4 years follow-up

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Mingsheng Ma ◽  
Mengqi Zhang ◽  
Yu Zhou ◽  
Fengxia Yao ◽  
Min Wei ◽  
...  
Keyword(s):  
Clinical Symptoms ◽  
Early Recognition ◽  
Male Infant ◽  
Bartter’S Syndrome ◽  
Bartter's Syndrome ◽  
Renal Tubular Disorder ◽  
Novel Variant ◽  
Renal Tubular ◽  
Antenatal Bartter’S Syndrome

Abstract Background Transient antenatal Bartter’s syndrome caused by MAGED2 mutation is a rare X-linked recessive renal tubular disorder. Cases reported are mostly infants, and the long-term prognosis of the disease is still under investigation. Case presentation We encountered a preterm male infant with polyhydramnios, polyuria, salt loss, hypercalciuria, nephrocalcinosis and alkalosis. Antenatal Bartter’s syndrome was suspected, but these clinical symptoms surprisingly disappeared after about 2 months. This led to the clinical diagnosis of transient antenatal Bartter’s syndrome. Gene analysis in this patient disclosed a novel variant (c.1598C > T, p.Ala533Val) in exon 12 of MAGED2 gene, and his mother was a heterozygous carrier. This patient was followed up in clinic for 4 years without recurrence of imbalance of potassium, sodium and chloride. His height and weight were in normal range, and all laboratory examinations and nephrotic ultrasound were also normal. Conclusions We reported the first Chinese case of transient antenatal Bartter’s syndrome caused by MAGED2 mutation. The 4-year follow-up of our case further demonstrates the benign prognosis of the disease and indicates that early recognition of this phenotype could avoid unnecessary treatments.

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