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Endocrine Abstracts (2018) 56 S2.2 | DOI: 10.1530/endoabs.56.S2.2

ECE2018 Symposia Salt & Sweet (3 abstracts)

Hereditary diabetes insipidus

Jonas Rutishauser


Switzerland.


Background: Families with inherited forms of diabetes insipidus (DI) have been described since the mid 19th century. Depending on the involved gene, the disorder is transmitted in autosomal dominant, autosomal recessive, or X-linked fashion.

Nephrogenic DI: Patients typically have a severe phenotype manifesting shortly after birth. They are most often males with X-linked disease due to variations in the vasopressin V2 receptor (AVPR2) gene. Rarely, variations in the aquaporin-2 (AQP2) gene underlie autosomal recessive or dominant transmission. Mutant proteins are functionally deficient and mostly retained in intracellular compartments.

Neurogenic DI: Symptoms of autosomal dominant familial neurohypophyseal DI (ADFNDI) start subtly months to years after birth, gradually increasing in severity. ADFNDI is caused by variations in the vasopressin (AVP) gene. Mutant proteins form amyloid-like aggregations and are retained in the endoplasmic reticulum. Rarely, autosomal-recessive neurohypophyseal DI results from AVP variations causing impaired binding to the AVPR2.

Diagnosis and treatment: Clinical testing by water deprivation (with or without infusion of hypertonic saline) is feasible but should be performed with caution, particularly in nephrogenic DI, since children may rapidly become severely dehydrated. Measurement of circulating copeptin levels during the test procedure facilitates differential diagnosis, and MRI of the hypothalamic/pituitary region may show abnormal findings. Direct genetic testing is indicated if a DI pedigree is present, or in patients with early-onset idiopathic DI even in the absence of a family history. Treatment strategies in hereditary DI follow those in non-hereditary disease. Pharmacological chaperones to promote rescue and membrane insertion of intracellularly retained AVPR2 molecules are not yet in clinical routine.

Conclusion: A family history of DI should prompt the correct diagnosis, but de novo mutations have been described as well. Mutational analysis is preferable over functional testing, particularly in children and in hereditary nephrogenic DI, where dehydration may become severe.

Volume 56

20th European Congress of Endocrinology

Barcelona, Spain
19 May 2018 - 22 May 2018

European Society of Endocrinology 

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