Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a mutation in the arginine-vasopressin II gene in four generations of a Korean family

Kim, Myo Jing; Kim, Young Eun; Ki, Chang Seok; Yoo, Jae Ho

doi:10.6065/apem.2014.19.4.220

Cited by 4 publications

(1 citation statement)

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“…1 Familial CDI with symptom onset in early childhood has been reported in only 1% to 5% of all CDI cases. 2,3 Genetic mutations in the AVP gene on chromosome 20p13, the WFS1 gene on chromosome 4p16.1, or the PCSK1 gene on chromosome 5q15 have been reported to cause this extremely rare entity. 4,5 Diagnosis of DI is usually made after a thorough hormonal workup and a water-deprivation test.…”

Section: Introductionmentioning

confidence: 99%

A Rare Case of Familial Neurogenic Diabetes Insipidus in a 22-Year-Old Man

Phan

Bloomer

Phan

et al. 2021

AACE Clinical Case Reports

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polyuria polydipsia central diabetes insipidus familial diabetes insipidus AVP gene desmopressin a b s t r a c t Objective: Diabetes insipidus (DI) can be classified into 2 types: central/neurogenic DI and nephrogenic DI. Most cases of central DI occur after brain surgery, trauma, tumor, or infection. Here we report a rare case of familial central DI due to a heterozygous AVP gene mutation. Methods: A case of familial neurogenic DI has been described with thorough clinical, laboratory, and genetic workup. PubMed and Google scholar databases were used for literature discussion. Results: A 22-year-old man presented with polyuria and polydipsia. He drank about 4 gallons of water everyday and urinated large volumes very frequently. His physical examination was unremarkable. After 2 hours of water-deprivation, his serum sodium level was 147 mmol/L, serum osmolality was 302 mOsm/ kg with concurrent urine osmolality of 78 mOsm/kg, vasopressin level was <0.8 pg/mL, and copeptin level was <2.8 pmol/L, suggesting neurogenic DI. His brain magnetic resonance imaging revealed the absence of the posterior pituitary bright spot but a normal anterior pituitary gland. Genetic analysis revealed a nonfunctional heterozygous mutation in the AVP gene. Further questioning revealed that his mother also had the disease and that he had been treated with desmopressin as a child; however, it was later self-stopped. The patient was reinitiated on desmopressin, which improved his symptoms. Conclusion: Genetic mutations in the AVP gene represent a very rare etiology of DI, and patients with DI respond well to desmopressin treatment.

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