What is it about?
This paper describes a novel 80 basepair duplication in the AVPR2 gene identified in a Swedish male who was diagnosed with congenital nephrogenic diabetes insipidus at 6 months of age without a formal fluid deprivation test.
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Why is it important?
Our paper highlights the importance of genetic testing in sporadic infant cases with congenital nephrogenic diabetes insipidus. These cases can occur either due to de novo variants in the AVPR2 gene as in the current case or due to several generations of female transmission of the disease-causing variant. Timely genetic testing allows early diagnosis and treatment of congenital nephrogenic diabetes insipidus which is essential to decrease the risk of intellectual disability caused by repeated episodes of dehydration and rapid rehydration.
Perspectives
I believe that the current report not only adds important knowledge to the growing body of published genotype-phenotype correlations in congenital nephrogenic diabetes insipidus but also puts attention to the challenging task to handle sporadic cases with this severe disease appropriately. I am grateful to my coauthors, the patient, and his family members that we can share our findings with the public.
Jane H. Christensen
Aarhus Universitet
Read the Original
This page is a summary of: Novel de novo AVPR2 Variant in a Patient with Congenital Nephrogenic Diabetes Insipidus, Case Reports in Nephrology and Dialysis, September 2017, Karger Publishers,
DOI: 10.1159/000480009.
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