The Renal Tubular Defect of Bartter’s Syndrome

Nephron ◽  
1982 ◽  
Vol 32 (2) ◽  
pp. 140-148 ◽  
Author(s):  
Carmine Zoccali ◽  
Ettore Bartoli ◽  
Giuseppe Curatola ◽  
Quirino Maggiore
Keyword(s):  
Bartter’S Syndrome ◽  
Bartter's Syndrome ◽  
Renal Tubular

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.

scholarly journals A Rare Case Report of Acquired Bartters With Positive Anti Scl70 Antibody

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A106-A106
Author(s):  
Arunkumar Ramanarth Pande ◽  
Deepali Mohanty
Keyword(s):  
Systemic Sclerosis ◽  
Serum Cortisol ◽  
Bartter Syndrome ◽  
Age Group ◽  
Bartter’S Syndrome ◽  
Bartter's Syndrome ◽  
Potassium Supplementation ◽  
Renal Tubular ◽  
Work Up

Abstract Introduction: Bartter syndrome autosomal recessive renal tubular disorders usualy presents in infant age group or antenatallyCase Description64 years housewife, a known case of hypothyroidism with in emergency with generalized weakness and hypotension. She had an small adrenal nodule work up which showed that it was non functional. On evaluation at time of stress (blood pressure 70/50) her serum cortisol was 300nmol/l and she was therefore started on hydrocortisone. Her records revealed hypokalemia for last 2 years. Workup of hypokalemia showed kaliuresis, metabolic alkalosis, hypercalciuria and excess chloride excretion in the urine, suggestive of bartter’s syndrome. But this needed further confirmation as bartter’s is rare in this age group and also the test was done at the time of stress. She was started on spironolactone and oral potassium supplementation. CECT head done for evaluation of postural dizziness showed chronic cortical venous thrombosis. On follow up ACTH stimulated cortisol was done which showed normal cortisol level so steroid was stopped. She was readmitted one month later with hypokalemia(K-1.8 meq/l) while being on same dosage of spironolactone and potassium. Workup of hypokalemia showed same feature of bartter’s syndrome. Considering the chain of events, a suggestion of bartter’s and response to steroid, a diagnosis of acquired autoimmune bartter’s syndrome along with hypothyroidism was made. An autoimmune work up showed anti SCL 70 positive2+(++). Patient responded to steroid, spironolactone, indomethacin and oral potassium supplementation. Discussion: Bartter’s syndrome can rarely happen in old age too. Seek for autoimmune cause once we suspect acquired bartter’s. To best of our knowledge previously only one case has been reported of acquired Bartter with systemic sclerosis. Patient may develop systemic sclerosis in future as anti SCL70 antibody is very specific for it. It is positive in less than 1 % of general population. Anti SCL70 antibody is rarely positive in Sjogrens syndrome. Our patient did not feature of sjogren or systemic sclerosis even after 4 years follow up

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.

Studies on the site of renal tubular defect in Bartter's syndrome

1997 ◽  
Vol 39 (3) ◽  
pp. 358-361
Author(s):  
MASAHIRO KIKUCHI ◽  
MARIKO SATO ◽  
AKIKO CHIBA ◽  
YASUSHI CHIBA ◽  
KAZUYA NAGAO ◽  
...  
Keyword(s):  
Bartter’S Syndrome ◽  
Bartter's Syndrome ◽  
Renal Tubular
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