Current perspective on the pathogenesis of central diabetes insipidus

Research output: Contribution to journalArticle

33 Citations (Scopus)

Abstract

Diabetes insipidus is a heterogeneous condition characterised by polyuria and polydipsia caused by a lack of secretion of vasopressin, its physiological suppression following excessive water intake, or kidney resistance to its action. The clinical and laboratory diagnosis is confirmed by standard tests, but recent advances in molecular biology and imaging techniques have shed new light on the pathophysiology of this disease. In many patients, central diabetes insipidus is caused by a germinoma or craniopharyngioma; Langerhans' cell histiocytosis and sarcoidosis of the central nervous system; local inflammatory, autoimmune or vascular diseases; trauma from surgery or accident; and, rarely, genetic defects in vasopressin biosynthesis inherited as autosomal dominant or X-linked recessive traits. Thirty to fifty percent of cases are considered idiopathic. Tumour-associated central diabetes insipidus is uncommon in children younger than 5 years old. Biopsy of enlarged pituitary stalk should be reserved for patients with hypothalamic-pituitary mass and progressive thickening of the pituitary stalk since spontaneous recovery may occur. Molecular biology in selected patients may identify those with apparently idiopathic diabetes insipidus carrying the vasopressin-neurophysin II gene mutation.

Original languageEnglish
Pages (from-to)631-645
Number of pages15
JournalJournal of Pediatric Endocrinology and Metabolism
Volume18
Issue number7
Publication statusPublished - Jul 2005

Fingerprint

Neurogenic Diabetes Insipidus
Vasopressins
Diabetes Insipidus
Pituitary Gland
Molecular Biology
Neurophysins
Germinoma
Polydipsia
Craniopharyngioma
Polyuria
X-Linked Genes
Langerhans Cell Histiocytosis
Molecular Imaging
Clinical Laboratory Techniques
Sarcoidosis
Vascular Diseases
Autoimmune Diseases
Drinking
Accidents
Central Nervous System

Keywords

  • Central diabetes insipidus
  • Neurophysin II gene mutation
  • Pathophysiology
  • Tumours
  • Vasopressin

ASJC Scopus subject areas

  • Endocrinology
  • Pediatrics, Perinatology, and Child Health

Cite this

Current perspective on the pathogenesis of central diabetes insipidus. / Ghirardello, Stefano; Malattia, Clara; Scagnelli, Paola; Maghnie, Mohamad.

In: Journal of Pediatric Endocrinology and Metabolism, Vol. 18, No. 7, 07.2005, p. 631-645.

Research output: Contribution to journalArticle

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