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

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...

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Autores principales:	Van T.T. Phan, MD, Zachary W. Bloomer, MD, Vien T.X. Phan, PhD, Mohamed K.M. Shakir, MD, Thanh D. Hoang, DO
Formato:	article
Lenguaje:	EN
Publicado:	Elsevier 2021
Materias:	polyuria polydipsia central diabetes insipidus familial diabetes insipidus AVP gene desmopressin Diseases of the endocrine glands. Clinical endocrinology RC648-665
Acceso en línea:	https://doaj.org/article/97fcf741a46348a98e3b40d34ee5d073
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spelling	oai:doaj.org-article:97fcf741a46348a98e3b40d34ee5d0732021-11-06T04:32:10ZA Rare Case of Familial Neurogenic Diabetes Insipidus in a 22-Year-Old Man2376-060510.1016/j.aace.2020.11.031https://doaj.org/article/97fcf741a46348a98e3b40d34ee5d0732021-11-01T00:00:00Zhttp://www.sciencedirect.com/science/article/pii/S2376060520310324https://doaj.org/toc/2376-0605Objective: 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.Van T.T. Phan, MDZachary W. Bloomer, MDVien T.X. Phan, PhDMohamed K.M. Shakir, MDThanh D. Hoang, DOElsevierarticlepolyuriapolydipsiacentral diabetes insipidusfamilial diabetes insipidusAVP genedesmopressinDiseases of the endocrine glands. Clinical endocrinologyRC648-665ENAACE Clinical Case Reports, Vol 7, Iss 6, Pp 338-341 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	polyuria polydipsia central diabetes insipidus familial diabetes insipidus AVP gene desmopressin Diseases of the endocrine glands. Clinical endocrinology RC648-665
spellingShingle	polyuria polydipsia central diabetes insipidus familial diabetes insipidus AVP gene desmopressin Diseases of the endocrine glands. Clinical endocrinology RC648-665 Van T.T. Phan, MD Zachary W. Bloomer, MD Vien T.X. Phan, PhD Mohamed K.M. Shakir, MD Thanh D. Hoang, DO A Rare Case of Familial Neurogenic Diabetes Insipidus in a 22-Year-Old Man
description	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.
format	article
author	Van T.T. Phan, MD Zachary W. Bloomer, MD Vien T.X. Phan, PhD Mohamed K.M. Shakir, MD Thanh D. Hoang, DO
author_facet	Van T.T. Phan, MD Zachary W. Bloomer, MD Vien T.X. Phan, PhD Mohamed K.M. Shakir, MD Thanh D. Hoang, DO
author_sort	Van T.T. Phan, MD
title	A Rare Case of Familial Neurogenic Diabetes Insipidus in a 22-Year-Old Man
title_short	A Rare Case of Familial Neurogenic Diabetes Insipidus in a 22-Year-Old Man
title_full	A Rare Case of Familial Neurogenic Diabetes Insipidus in a 22-Year-Old Man
title_fullStr	A Rare Case of Familial Neurogenic Diabetes Insipidus in a 22-Year-Old Man
title_full_unstemmed	A Rare Case of Familial Neurogenic Diabetes Insipidus in a 22-Year-Old Man
title_sort	rare case of familial neurogenic diabetes insipidus in a 22-year-old man
publisher	Elsevier
publishDate	2021
url	https://doaj.org/article/97fcf741a46348a98e3b40d34ee5d073
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A Rare Case of Familial Neurogenic Diabetes Insipidus in a 22-Year-Old Man

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