Sujet de la discussion : MedeSpace.Net :: United State Médical Licensing Examination

Publié par La Pharmacienne le 15-02-2009 03:04
#30

Answer to Question 03 :

The answer is c, Diabetes insipidus.

Nephrogenic diabetes insipidus is a hereditary congenital disorder in which the urine is hypotonic and produced in large volumes because the kidneys fail to respond to antidiuretic hormone. Most North American patients thus involved are descendants of Ulster Scots who came to Nova Scotia in 1761 on the ship Hopewell. Males are primarily affected, through an X-linked recessive inheritance causing inactivating mutation of the vasopressin V2 receptor; autosomal dominant and recessive forms are also known. The disorder is felt to result from primary unresponsiveness of the distal tubule and collecting duct to vasopressin.

Although the condition is present at birth, the diagnosis is often not made until several months later, when excessive thirst, frequent voiding of large volumes of dilute urine, dehydration, and failure to thrive become obvious. Maintenance of adequate fluid intake and diet and use of saluretic drugs are the bases of therapy for this incurable disease.

Water intoxication would not present with episodes of dehydration; diabetes mellitus rarely presents with a protracted course in such a young child (it is usually a more acute illness and often with vomiting). Child abuse would be unlikely, especially with a family history as noted. Nephrotic syndrome would be expected to present with other signs such as edema and proteinuria.

A vous.