| Cranial DI . | Primary polydipsia . |
|---|---|
| . | Nephrogenic DI . |
Inherited/familial | • Psychogenic |
• Autosomal dominant | • Dipsogenic (abnormal thirst) |
• Autosomal recessive | |
• X-linked recessive (Xq28) | |
• Wolfram syndrome (4p WFS1) | Inherited/familial |
Congenital | • Autosomal dominant: |
• Midline craniofacial defects | Aquaporin-2 gene |
• Holoprosencephaly | • Autosomal recessive: |
Aquired | Aquaporin-2 gene |
• Intracranial tumours | • X-linked recessive: |
• Craniopharyngioma | ADH receptor-2 gene |
• Germinoma | Aquired |
• Traumatic brain injury | • Idiopathic |
• Infiltrative/inflammation: | • Drugs (lithium; cisplatin) |
Langerhan's cell histiocytosis | • Metabolic (hypercalcaemia) |
• CNS infection |
| Cranial DI . | Primary polydipsia . |
|---|---|
| . | Nephrogenic DI . |
Inherited/familial | • Psychogenic |
• Autosomal dominant | • Dipsogenic (abnormal thirst) |
• Autosomal recessive | |
• X-linked recessive (Xq28) | |
• Wolfram syndrome (4p WFS1) | Inherited/familial |
Congenital | • Autosomal dominant: |
• Midline craniofacial defects | Aquaporin-2 gene |
• Holoprosencephaly | • Autosomal recessive: |
Aquired | Aquaporin-2 gene |
• Intracranial tumours | • X-linked recessive: |
• Craniopharyngioma | ADH receptor-2 gene |
• Germinoma | Aquired |
• Traumatic brain injury | • Idiopathic |
• Infiltrative/inflammation: | • Drugs (lithium; cisplatin) |
Langerhan's cell histiocytosis | • Metabolic (hypercalcaemia) |
• CNS infection |
Children present with polydipsia, polyuria, and nocturia, which must be distinguished from more common causes. Infants may exhibit failure to thrive, fever, and constipation. Other symptoms may be related to the underlying cause, e.g. headache, visual acuity/visual field impairment.
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