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Hereditary central diabetes insipidus

Orpha number ORPHA30925
Synonym(s) Hereditary CDI
Hereditary neurogenic diabetes insipidus
Prevalence Unknown
Inheritance Autosomal dominant
Autosomal recessive
X-linked dominant
Age of onset Childhood
ICD-10
  • E23.2
ICD-O -
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

Hereditary central diabetes insipidus is a rare genetic subtype of central diabetes insipidus (CDI, see this term) characterized by polyuria and polydipsia due to a deficiency in vasopressin (AVP) synthesis.

The prevalence is unknown.

Symptoms usually develop between 1 and 6 years of age but onset in the neonatal period or in elderly patients has been described. They include polyuria, polydipsia and nocturia (often manifesting as enuresis in children). Additional symptoms seen in children can include: lethargy, irritability, growth retardation, weight loss, fever, vomiting or diarrhea. In the autosomal recessive form, symptoms are secondary to reduced biological activity of mutant AVP; heterozygous carriers have subclinical manifestations or are asymptomatic.

The origin of the disease is genetic and is usually due to a mutation in the AVP gene located on chromosome 20p13 that encodes a precursor protein consisting of arginine vasopressin and two associated proteins, neurophysin 2 and copeptin. All except a few cases show an autosomal dominant pattern of inheritance. Rarely, an autosomal recessive or X-linked pattern of inheritance is reported.

Expert reviewer(s)

  • Dr Stefano GHIRARDELLO

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Detailed information

Emergency guidelines
  • IT (2009,pdf)
  • ES (2009,pdf)
  • FR (2009,pdf)
  • PT (2009,pdf)
  • EN (2009,pdf)
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