Nephrogenic diabetes insipidus
From Wikipedia, the free encyclopedia
| Nephrogenic diabetes insipidus | |
| Classification and external resources | |
| ICD-10 | N25.1 |
|---|---|
| ICD-9 | 588.1 |
| OMIM | 304800 125800 |
| MeSH | D018500 |
Nephrogenic diabetes insipidus is a form of diabetes insipidus due primarily to pathology of the kidney.
Contents |
[edit] Causes
[edit] Acquired
Nephrogenic DI is most common in its acquired forms, meaning that the defect was not present at birth. These acquired forms have numerous potential causes. The most obvious cause is a kidney or systemic disorder, including amyloidosis [1], polycystic kidney disease [2], electrolyte imbalance,[3][4] or some other kidney defect.[1]
In addition to kidney and systemic disorders, nephrogenic DI can present itself as a side-effect to some medications. The most common and well known of these drugs is lithium,[5] although there are numerous other medications that cause this effect with lesser frequency.[1]
[edit] Hereditary
This form of DI can also be hereditary.
- Usually, the hereditary form of nephrogenic DI is the result of an X-linked genetic defect which causes the vasopressin receptor (also called the V2 receptor) in the kidney to not function correctly.[1][6]
- In more rare cases, a mutation in the "aquaporin 2" gene can cause a break in the kidney water channel, which results in the kidney being unable to absorb water.[1][7]
[edit] Presentation
The Clinical manifestation is similar to Neurogenic diabetes insipidus, presenting with excessive thirst and excretion of a large amount of dilute urine. Dehydration is common, and incontinence can occur secondary to chronic bladder distension.[8] On investigation, there will be an increased plasma osmolarity and descreased urine osmolarity. As pituitary function is normal, ADH levels are likely to be a normal or raised.
[edit] Treatment
Treat any underlying cause, allow the patient to drink as much as required. Correct metabolic abnormalities. The first line of treatment is desmopressin, a vasopressin analogue, even in vasopressin receptor receptor malfunction. If this is not successful, other options are available, although their efficacy is limited: [8]
[edit] References
- ^ a b c d e Wildin, Robert (2006), What is NDI?, The Diabetes Inspidus Foundation http://www.diabetesinsipidus.org/4_types_nephrogenic_di.htm
- ^ http://kidney.niddk.nih.gov/kudiseases/pubs/insipidus/index.htm
- ^ Marples D, Frøkiaer J, Dørup J, Knepper MA, Nielsen S (April 1996). "Hypokalemia-induced downregulation of aquaporin-2 water channel expression in rat kidney medulla and cortex". J. Clin. Invest. 97 (8): 1960–8. doi:. PMID 8621781.
- ^ Carney S, Rayson B, Morgan T (October 1976). "A study in vitro of the concentrating defect associated with hypokalaemia and hypercalcaemia". Pflugers Arch. 366 (1): 11–7. PMID 185584.
- ^ Christensen S, Kusano E, Yusufi AN, Murayama N, Dousa TP (June 1985). "Pathogenesis of nephrogenic diabetes insipidus due to chronic administration of lithium in rats". J. Clin. Invest. 75 (6): 1869–79. doi:. PMID 2989335.
- ^ Online 'Mendelian Inheritance in Man' (OMIM) DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED -304800
- ^ Online 'Mendelian Inheritance in Man' (OMIM) DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL -125800
- ^ a b Kavanagh, Sean (20 Jun 2007). "Nephrogenic Diabetes Insipidus". Patient UK. http://www.patient.co.uk/showdoc/40001780/. Retrieved on 22 Jun 2009.
- ^ Kirchlechner V, Koller DY, Seidl R, Waldhauser F (June 1999). "Treatment of nephrogenic diabetes insipidus with hydrochlorothiazide and amiloride". Arch. Dis. Child. 80 (6): 548–52. PMID 10332005. PMC: 1717946. http://adc.bmj.com/cgi/pmidlookup?view=long&pmid=10332005.
- ^ Lejarraga H, Caletti MG, Caino S, Jiménez A (November 2008). "Long-term growth of children with nephrogenic diabetes insipidus". Pediatr. Nephrol. 23 (11): 2007–12. doi:. PMID 18584216. http://dx.doi.org/10.1007/s00467-008-0844-8.
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