Hereditary Central Diabetes Insipidus

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Retrieved

2021-01-23

Source

Orphanet

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Genes

AVP, WFS1, BRAF, TP63, SHH, NAPSA, ACOT8, NCKAP1, NAP1L1, TRMO, MAGEL2, AZI2, CTNNB1, NAA25, CXCL8, TAB3, MTFMT, ALB, AVPR2, ATP4A, ATP12A, AQP2, INSRR, TNF, ACAD8, PIK3CB, SLC9A3, H6PD, NRP2, PIK3CD

AVP, WFS1, BRAF, TP63, SHH, NAPSA, ACOT8, NCKAP1, NAP1L1, TRMO, MAGEL2, AZI2, CTNNB1, NAA25, CXCL8, TAB3, MTFMT, ALB, AVPR2, ATP4A, ATP12A, AQP2, INSRR, TNF, ACAD8, PIK3CB, SLC9A3, H6PD, NRP2, PIK3CD, PIK3CG, NPTX2, CRYL1, GLUD1, IL23A, PIK3CA, CYP2E1, UGDH, CRP, RPH3A, ATP6AP2, ROPN1L, ATG5, RTCA, COPD, EOS, ASPM, SYNM, WDHD1, GPR182, CLVS1, CABIN1, PLA2G15, SUMF2, FGF21, VEGFA, CD274, A1CF, IL22, MBL3P, MARCHF1, ACSS2, ACCS, ACR, MOK, UROD, TRH, IL1B, HCFC1, GZMM, GAP43, FYN, FBN2, EPHB2, EMP1, SLC26A3, CALCA, C3, ATP7B, ASPH, ASPA, ASIP, AKT1, AHR, IL2, IL4, IL15, PRKCD, TIMP2, TFAP2B, SEL1L, CCL3, RPS20, AGER, MAPK1, POMC, IL17A, PCSK1, NFKB2, MMP13, MBL2, MAX, LEPR, CXCL10, BTBD8

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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.

Epidemiology

The prevalence is unknown.

Clinical description

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.

Etiology

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.