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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...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
American Association of Clinical Endocrinology
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8573270/ https://www.ncbi.nlm.nih.gov/pubmed/34765727 http://dx.doi.org/10.1016/j.aace.2020.11.031 |
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author | Phan, Van T.T. Bloomer, Zachary W. Phan, Vien T.X. Shakir, Mohamed K.M. Hoang, Thanh D. |
author_facet | Phan, Van T.T. Bloomer, Zachary W. Phan, Vien T.X. Shakir, Mohamed K.M. Hoang, Thanh D. |
author_sort | Phan, Van T.T. |
collection | PubMed |
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 | Online Article Text |
id | pubmed-8573270 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | American Association of Clinical Endocrinology |
record_format | MEDLINE/PubMed |
spelling | pubmed-85732702021-11-10 A Rare Case of Familial Neurogenic Diabetes Insipidus in a 22-Year-Old Man Phan, Van T.T. Bloomer, Zachary W. Phan, Vien T.X. Shakir, Mohamed K.M. Hoang, Thanh D. AACE Clin Case Rep Case Report 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. American Association of Clinical Endocrinology 2020-11-27 /pmc/articles/PMC8573270/ /pubmed/34765727 http://dx.doi.org/10.1016/j.aace.2020.11.031 Text en https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/). |
spellingShingle | Case Report Phan, Van T.T. Bloomer, Zachary W. Phan, Vien T.X. Shakir, Mohamed K.M. Hoang, Thanh D. A Rare Case of Familial Neurogenic Diabetes Insipidus in a 22-Year-Old Man |
title | 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_short | 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 |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8573270/ https://www.ncbi.nlm.nih.gov/pubmed/34765727 http://dx.doi.org/10.1016/j.aace.2020.11.031 |
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