Vol 2013: Utility of genetic testing in suspected familial cranial diabetes insipidus.Report as inadecuate



 Vol 2013: Utility of genetic testing in suspected familial cranial diabetes insipidus.


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This article is from Endocrinology, Diabetes & Metabolism Case Reports, volume 2013.AbstractAim: Differentiating familial cranial diabetes insipidus CDI from primary polydipsia can be difficult. We report the diagnostic utility of genetic testing as a means of confirming or excluding this diagnosis. Patient and methods: The index case presented at 3 months with polydipsia. He was diagnosed with familial CDI based on a positive family history combined with what was considered to be suspicious symptomatology and biochemistry. He was treated with desmopressin DDAVP but re-presented at 5 months of age with hyponatraemia and the DDAVP was stopped. Gene sequencing of the vasopressin gene in father and his offspring was undertaken to establish the underlying molecular defect. Results: Both father and daughter were found to have the pathogenic mutation c.242TC p.Leu81Pro in exon 2 of the AVP gene consistent with a diagnosis of familial diabetes insipidus. The index case did not have the pathogenic mutation and the family could be reassured that he would not require intervention with DDAVP. Conclusions: Gene sequencing of AVP gene can have a valuable role in predicting whether or not a child is at risk of developing CDI in future. This can help to prevent family uncertainty and unnecessary treatment with its associated risks. Learning points: Differentiating patients with familial cranial diabetes insipidus from those with primary polydipsia is not always straightforward.Molecular genetic analysis of the vasopressin gene is a valuable way of confirming or refuting a diagnosis of familial CDI in difficult cases and is a valuable way of identifying individuals who will develop CDI in later childhood. This information can be of great value to families.



Author: Srinivasan, Ramesh; Ball, Stephen; Ward-Platt, Martin; Bourn, David; McAnulty, Ciaron; Cheetham, Tim

Source: https://archive.org/







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