Antenatal Bartter's syndrome: why is this not a lethal condition?

Böckenhauer, Detlef; Cruwys, Michele; Kleta, Robert; Halperin, Laura; Wildgoose, Petra; Souma, Takahiro; Nukiwa, N.; Cheema‐Dhadli, Surinder; Chong, Chee Keong; Kamel, K.S.; Davids, Mogamat Razeen; Ml, Halperin

doi:10.1093/qjmed/hcn119

Cited by 28 publications

(25 citation statements)

References 23 publications

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“…NDI can also occur as a secondary complication in other inherited diseases, such as Bartter syndrome, nephronophthisis or cystinosis. Therefore, the stratification of patients based on genetic testing will provide the clinician with data pertaining to the primary or secondary cause of NDI and enable the appropriate intervention and fluid management therapy to be initiated, thereby avoiding hypernatraemic dehydration [22,23].…”

Section: Supporting Clinical Managementmentioning

confidence: 99%

Genetic testing in renal disease

et al. 2011

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A revolution is happening in genetics! The decoding of the first genome in 2003 was a large international collaborative effort that took about 13 years at a cost of around $2.7 billion. Now, only a few years later, new technology allows the sequencing of an entire genome within a few weeks--and at a cost of less than $10,000. The vaunted $1000 genome is within reach. These extraordinary advances will undoubtedly transform the way we practice medicine. But, like any new technology, it carries risks, as well as benefits. As physicians, we need to understand the implications in order to best utilise these advances for our patients and to provide informed advice. In this review, our aim is to explain these new technologies, to separate the hype from the reality and to address some of the resulting questions and implications. The practical objective is to provide a simple overview of the available technologies and of purpose to which they are best suited.

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Section: Supporting Clinical Managementmentioning

confidence: 99%

Genetic testing in renal disease

et al. 2011

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“…A failure of the kidney to appropriately respond to AVP is called nephrogenic diabetes insipidus (NDI). While NDI can occur in the context of other kidney diseases [1,2], 2 forms of classical inherited NDI are recognized: (1) a common (approx. 90%) X-linked recessive form due to mutations in the V 2 R-encoding gene, AVPR2 , and (2) a rare (approx.…”

Section: Introductionmentioning

confidence: 99%

Vasopressin Type 2 Receptor V88M Mutation: Molecular Basis of Partial and Complete Nephrogenic Diabetes Insipidus

et al. 2009

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Background/Aims: Mutations in the type 2 vasopressin receptor gene (AVPR2) underlie X-linked recessive nephrogenic diabetes insipidus (NDI). Here, we report on a family with a mutation in AVPR2, c.262G>A (p.V88M). This recurrently identified mutation was previously shown to abolish AVPR2 function, yet in some affected members, urine osmolalities of up to 570 mosm/kg were observed. We detail the variable clinical phenotype and investigate its molecular basis. Methods: Retrospective analysis of clinical data and in vitro assessment of wild-type and V88M-mutant receptors. Results: Clinical data were available on 6 patients. Four of these demonstrated a substantial increase in urinary concentration after 1-desamino[8-D-arginine] vasopressin, consistent with partial NDI, while 2 did not respond. In vitro analysis revealed a reduced cell surface expression and decreased binding affinity for arginine-vasopressin of the mutant receptor, leading to blunted signaling activity. Treatment with the pharmacological chaperone SR121463 enhanced cell surface expression. Conclusion: The V88M mutation is associated with phenotypical diversity, which may be explained by the fact that both the expression level and the hormone-binding affinity are affected by the mutation. Our results provide a rational basis for treatment trials with vasopressin analogues in combination with pharmacologic chaperones in patients with this recurrently identified mutation.

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“…NDI can also occur as a secondary complication, either in association with certain drugs, such as lithium, with other inherited diseases, such as Bartter syndrome, or, most commonly, with urinary tract obstruction or the release of it [9][10][11][12][13]. Thus, the observed NDI in this boy could have been secondary to the obstructive uropathy, in which case one would have expected a slow improvement after release of the obstruction.…”

Section: Commentarymentioning

confidence: 82%