IllnessDiabetes insipidus, centralis/nephrogenic, familial; differential diagnosis

NGS +

[Sanger]

Diabetes insipidus is characterized by polyuria and polydipsia. Acquired forms are often caused by injury to the hypothalamus or pituitary gland, tumors, trauma, ischemia, autoimmune disease or they result from primary polydipsia. Neurohypophyseal or central diabetes insipidus is due to insufficient production of arginine vasopressin (AVP) in the posterior pituitary lobe; nephrogenic diabetes insipidus (NDI) develops from defects in renal vasopressin signaling or from increased AVP depletion by placental vasopressinase during pregnancy. Hereditary NDI is most commonly inherited in an X-linked manner (90% of patients), autosomal recessively (9%) or autosomal dominantly (1%). The inherited forms should be clarifiable by molecular genetics.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1177/

• Alias: Monogenic nephrogenic diabetes insipidus (AQP2, AVPR2)
• Alias: Neurogenic diabetes insipidus (AVP)
• Allelic: Blood group, Colton (AQP1)
• Allelic: Cataract 41 (WFS1)
• Allelic: Deafness, AD 6/14/38 (WFS1)
• Allelic: Diabetes mellitus, noninsulin-dependent, association with (WFS1)
• Allelic: Nephrogenic syndrome of inappropriate antidiuresis (AVPR2)
• Aquaporin-1 deficiency (AQP1) 3
• Bartter syndrome, type 1 [secondary diabetes insipidus only] (SLC12A1)
• Diabetes insipidus, nephrogenic (AQP2, AVPR2)
• Diabetes insipidus, neurohypophyseal (AVP)
• Neuropophyseal diabetes insipidus [panelapp] (AQP1)
• Wolfram syndrome 1 [secondary diabetes insipidus only] (WFS1)
• Wolfram-like syndrome, AD [secondary diabetes insipidus only] (WFS1)