Bartter's syndrome and the atrial natriuretic factor gene.

Graham, R.; Bloch, Kenneth D.; Delaney, Vera; Bourke, E.; Seidman, J. G.

doi:10.1161/01.hyp.8.6.549

Cited by 17 publications

(5 citation statements)

References 16 publications

(12 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…However, in a large kindred with the disease, no genetic linkage was present with the atrial natriuretic peptide gene [66], thus suggesting that the increased plasma level of atriopeptin is a secondary phenomenon. Prostaglandins stimulate atrial natriuretic peptide secretion in cultured atrial cardiomyocytes [67] and indomethacin lowers atrial natriuretic peptide levels in patients with Bartter syndrome [64].…”

Section: Pathophysiologymentioning

confidence: 95%

Bartter and related syndromes: the puzzle is almost solved

Rodríguez‐Soriano

1998

Pediatric Nephrology

163

147

View full text Add to dashboard Cite

It is now evident that the term Bartter syndrome does not represent a unique entity but encompasses a variety of disorders of renal electrolyte transport. Application of molecular biology techniques has permitted a better understanding of these "Bartter-like syndromes," which at present can be divided into three different genetic and clinical entities. Neonatal Bartter syndrome is observed in newborn infants and characterized by polyhydramnios, premature delivery, life-threatening episodes of fever and dehydration during the early weeks of life, growth retardation, hypercalciuria, and early-onset nephrocalcinosis. Two molecular defects have been identified: either at the gene encoding the renal bumetanide-sensitive Na-K-2Cl cotransporter (NKCC2) or the gene encoding an ATP-sensitive inwardly rectifying K channel (ROMK). "Classic" Bartter syndrome is mostly observed during infancy and childhood and is characterized clinically by polyuria and growth retardation. Nephrocalcinosis is not present. Very recently, either deletions or mutations at the gene encoding a renal chloride channel (ClC-Kb) have been identified. Gitelman syndrome is observed in older children and adults presenting with intermittent episodes of muscle weakness and tetany, hypokalemia, and hypomagnesemia. Mutations at the gene encoding the thiazide-sensitive Na-Cl cotransporter have been identified in the majority of patients studied. Obviously the validity of this classification must be confirmed in the near future when all mutations have been described and genotypic-phenotypic correlations are better defined.

show abstract

Section: Pathophysiologymentioning

confidence: 95%

Bartter and related syndromes: the puzzle is almost solved

Rodríguez‐Soriano

1998

Pediatric Nephrology

163

147

View full text Add to dashboard Cite

show abstract

“…Several studies to identify the genetic basis of BS have been performed by use of a candidate-gene approach. The genes for atrial natriuretic factor (Graham et al 1986), angiotensin II type I receptor (Yoshida et al 1994), and renin (Higaki and Ogihara 1992) have been screened, and no polymorphism has been found to segregate with the phenotype. However, Gitelman syndrome recently has been found to be caused by mutations in the thiazide-sensitive Na ϩ -Cl Ϫ cotransporter (TSC) gene on chromosome 16 (Simon et al 1996c).…”

Section: Introductionmentioning

confidence: 99%

Linkage of Infantile Bartter Syndrome with Sensorineural Deafness to Chromosome 1p

Brennan

Landau

Shalev

et al. 1998

The American Journal of Human Genetics

View full text Add to dashboard Cite

Bartter syndrome (BS) is a family of disorders manifested by hypokalemic hypochloremic metabolic alkalosis with normotensive hyperreninemic hyperaldosteronism. We evaluated a unique, inbred Bedouin kindred in which sensorineural deafness (SND) cosegregates with an infantile variant of the BS phenotype. Using a DNA-pooling strategy, we screened the human genome and successfully demonstrated linkage of this unique syndrome to chromosome 1p31. The genes for two kidney-specific chloride channels and a sodium/hydrogen antiporter, located near this region, were excluded as candidate genes. Although the search for the disease-causing gene in this family continues, this linkage further demonstrates the genetic heterogeneity of BS. In addition, the cosegregation of these phenotypes allows us to postulate that a single genetic alteration may be responsible for the SND and the BS phenotype. The identification and characterization of this gene would lead to a better understanding of the normal physiology of the kidney and the inner ear.

show abstract

“…In agreement with our observation, no involvement of ANP has been reported in Bartter's syndrome (Cushner et al 1990). Gene analysis has also indicated no linkage of ANP gene with Bartter's syndrome (Graham et al 1986). These observations do not support a primary involvement of ANP in the pathogenesis of Bartter's syndrome.…”

Section: Discussionmentioning

confidence: 99%

A Case of Secondary Aldosteronism Similar to Bartter's Syndrome with No Abnormality in Renal Chloride Reabsorption.

Takeuchi

Imai

Omata

et al. 1993

Tohoku J. Exp. Med.

View full text Add to dashboard Cite

We had a 20-year-old male patient of secondary aldosteronism similar to Bartter's syndrome, which had proved to be evident after the remission of nephrotic syndrome. In the patient, hypokalemic alkalosis and hyperreninemic hyperaldosteronemia were observed, although the blood pressure was normal. Hyperplasia of juxtaglomerular cells was observed and no abnormalities indicating either glomerulonephritis or renal artery stenosis were found; the pressor response to intravenously infused angiotensin (ang) II was markedly decreased ; urinary prostaglandin (PG) E2, kallikrein and kinin excretion were elevated. The inhibition of PG synthesis with indomethacin decreased renal PG production and partially corrected both hypokalemia and pressor responsiveness to ang II. Thus, this case is considered to be a case of Bartter's syndrome. Contrary to the previously reported observations, the effective fractional chloride reabsorption rate in the renal distal tubules was normal (>80%) and not changed by PG inhibition. Plasma atrial natriuretic peptide level was normal. An interaction between renin-angiotensin and PG systems appears to play a prior role in this case. To explain the pathophysiology, we have hypothesized an abnormal function of ang II receptor signal transduction which excessively stimulates PLA2, resulting in overproduction of PG synthesis in tissues.prostaglandin ; nephrotic syndrome ; angiotensin II receptor ; kallikrein-kinin system ; atrial natriuretic peptide Secondary aldosteronism refers to an appropriately increased production of adrenal aldosterone in response to activation of the renin-angiotensin (R-A) system, while primary aldosteronism is due to an adrenal adenoma autonomously secreting mineralocorticoids.Secondary aldosteronism, therefore, occurs in such a pathophysiologic condition as a decrease in effective plasma volume (i.e.,

show abstract

Bartter's syndrome and the atrial natriuretic factor gene.

Cited by 17 publications

References 16 publications

Bartter and related syndromes: the puzzle is almost solved

Bartter and related syndromes: the puzzle is almost solved

Linkage of Infantile Bartter Syndrome with Sensorineural Deafness to Chromosome 1p

A Case of Secondary Aldosteronism Similar to Bartter's Syndrome with No Abnormality in Renal Chloride Reabsorption.

Contact Info

Product

Resources

About