ArticleAACE clinical case reports
A Rare Case of Familial Neurogenic Diabetes Insipidus in a 22-Year-Old Man.
Article in AACE clinical case reports. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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Who cites it
1 citing paper in PubMed, 1 citations in OpenAlex.
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveDiabetes 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
methodsA 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.
resultsA 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
conclusionGenetic mutations in the
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