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 thyroid hormon system
	Disorders of sex development
	Disorders of the growth control system
	Disorders of the parathyroid hormone system
	Genetic adrenal disease
	Genetic disorders of pituitary gland
	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
	Multiple endocrine neoplasia 1

References:

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