Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Hereditary diabetes insipidus

Hereditary diabetes insipidus is a disorder caused by mutation of genes that impaire either vasopressin production or action. It is clinically characterized by an abnormally large volume of diluted urine.

Epidemiology

Less than 10% of diabetes insipidus can be attributed to hereditary forms.[Error: Macro 'ref' doesn't exist]

Differentials

As most patients with diabetes insipidus have aquired forms, this has to be excluded primarily.

Symptoms

Polyuria
Polyuria is most prominent in diabetes insipidus. Urine osmolality is usually below 300 mosmol/kg and total solute excretion normal (600 to 900 mosmol/day).

Systematic

Hereditary endocrinological diseases
Autoimmune polyendokrinopathy
Disorder of the aldosterone system
Disorder of the thyroid hormon system
Disorders of sex development
Disorders of the growth control system
Disorders of the parathyroid hormone system
Disorders of the steroid hormone system
Hereditary diabetes insipidus
Central diabetes insipidus
AVP
Nephrogenic diabetes insipidus
AQP2
AVPR2
Wolfram syndrome
Diabetes insipidus and mellitus with optic atrophy and deafness
Wolfram syndrome 1
WFS1
Wolfram syndrome 2
CISD2
Hereditary dsorders of the pituitary gland
Kidney disease appearing as endocrinological disorders
Pheochromocytoma

References:

1.

Fujiwara TM et al. (2005) Molecular biology of hereditary diabetes insipidus.

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Update: Sept. 26, 2018