scholarly journals Successful Treatment of Short Stature and Delayed Puberty in Congenital Magnesium-Losing Kidney

1993 ◽  
Vol 30 (5) ◽  
pp. 494-498 ◽  
Author(s):  
A J Taylor ◽  
T L Dornan
Keyword(s):  
Short Stature ◽  
Renal Tubule ◽  
Failure To Thrive ◽  
Juxtaglomerular Apparatus ◽  
Tubular Reabsorption ◽  
Delayed Puberty ◽  
Bartter’S Syndrome ◽  
Bartter's Syndrome ◽  
Uncommon Disease ◽  
Biochemical Abnormalities

Bartter's syndrome is a well described but uncommon disease characterized by hypokalaemia and hyperplasia of the juxtaglomerular apparatus of the kidney. It may present in infancy with failure to thrive and muscle weakness; it commonly causes short stature. Lesions at different sites within the renal tubule have been proposed as the cause of the syndrome. However, the biochemical abnormalities in many cases can be explained by defective reabsorption of chloride in the ascending loop of Henle, with loss of sodium and water and a secondary increase in renin and aldosterone concentrations. Less severe cases have been described which present in adolescence and have tetany as a prominent feature. Primary renal loss of magnesium associated with potassium wasting has been described in such cases and it has been suggested that these can be distinguished from classical Bartter's syndrome by hypocalciuria. This less well characterized disease has been named Welt, Gitelman-Welt or Gitelman syndrome and may include deficient tubular reabsorption of chloride, but the sites of magnesium and potassium loss in the kidney are uncertain. We describe a patient with this syndrome who presented with short stature, delayed puberty and tetany and responded well to magnesium replacement.

The juxtaglomerular apparatus in Bartter's syndrome and related tubulopathies

1988 ◽  
Vol 412 (5) ◽  
pp. 459-470 ◽  
Author(s):  
R. Taugner ◽  
R. Waldherr ◽  
H. W. Seyberth ◽  
E. G. Erd�s ◽  
J. Menard ◽  
...  
Keyword(s):  
Juxtaglomerular Apparatus ◽  
Bartter’S Syndrome ◽  
Bartter's Syndrome

scholarly journals Cystinosis: A Rare Case Presentation

2015 ◽  
Vol 01 (01) ◽  
pp. 002-004
Author(s):  
Karan Hantodkar ◽  
Mahesh Mohite ◽  
Pankaj Deshpande
Keyword(s):  
Metabolic Acidosis ◽  
Rare Case ◽  
Fanconi Syndrome ◽  
Systemic Disease ◽  
Failure To Thrive ◽  
Bartter’S Syndrome ◽  
Bartter's Syndrome ◽  
Case Presentation

AbstractCystinosis is a systemic disease caused by defect in metabolism of Cystine. It typically presents as Fanconi syndrome with metabolic acidosis, polyuria, failure to thrive, glucosuria, phophaturia and aminoaciduria. Our patient did not display metabolic acidosis at presentation and had features suggesting Bartter's syndrome.

scholarly journals Severe polyhydramnios as neonatal presentation of Bartter’s syndrome type IV

2021 ◽  
Vol 21 (2) ◽  
pp. 679-684
Author(s):  
Mariana Alvarenga Hoesen Doutel Coroado ◽  
Joana Manuel Silva Fernandes Lopes Tavares ◽  
António Gonçalo Inocêncio Vila Verde ◽  
Maria do Céu Pinhão Pina Rodrigues ◽  
Liane Maria Correia Rodrigues da Costa Nogueira Silva ◽  
...  
Keyword(s):  
Clinical Manifestations ◽  
Sensorineural Deafness ◽  
Failure To Thrive ◽  
Normal Karyotype ◽  
Fetal Malformation ◽  
Syndrome Type ◽  
Bartter’S Syndrome ◽  
Bartter's Syndrome ◽  
Type Iv ◽  
Autosomal Recessive Diseases

Abstract Introduction: Bartter’s syndrome comprises a heterogeneous group of inherited salt-losing tubulopathies. There are two forms of clinical presentation: classical and neonatal, the most severe type. Types I and II account for most of the neonatal cases. Types III and V are usually less severe. Characteristically Bartter’s syndrome type IV is a saltlosing nephropathy with mild to severe neonatal symptoms, with a specific feature - sensorineural deafness. Bartter’s syndrome type IV is the least common of all recessive types of the disease. Description: the first reported case of a Portuguese child with neurosensorial deafness, polyuria, polydipsia and failure to thrive, born prematurely due to severe polyhydramnios, with the G47R mutation in the BSND gene that causes Bartter’s syndrome type IV. Discussion: there are few published cases of BS type IV due to this mutation and those reported mostly have moderate clinical manifestations which begin later in life. The poor phenotype-genotype relationship combined with the rarity of this syndrome usually precludes an antenatal diagnosis. In the presence of a severe polyhydramnios case, with no fetal malformation detected, normal karyotype and after maternal disease exclusion, autosomal recessive diseases, including tubulopathies, should always be suspected.

Short stature and delayed puberty in gymnasts: Influence of selection bias on leg length and the duration of training on trunk length

2000 ◽  
Vol 136 (2) ◽  
pp. 149-155 ◽  
Author(s):  
Shona Bass ◽  
Michelle Bradney ◽  
Georgina Pearce ◽  
Elke Hendrich ◽  
Karen Inge ◽  
...  
Keyword(s):  
Short Stature ◽  
Selection Bias ◽  
Delayed Puberty ◽  
Leg Length ◽  
Trunk Length

scholarly journals Electrocardiographic findings and frequency of arrhythmias in Bartter's syndrome.

Heart ◽  
1989 ◽  
Vol 61 (3) ◽  
pp. 274-279 ◽  
Author(s):  
C Blomstrom-Lundqvist ◽  
K Caidahl ◽  
S B Olsson ◽  
A Rudin
Keyword(s):  
Bartter’S Syndrome ◽  
Bartter's Syndrome ◽  
Electrocardiographic Findings
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