Which syndrome could lead to urinary tract problems, diabetes insipidus, and optic atrophy?

Get ready for the American Board of Genetic Counseling exam. Prepare with flashcards and multiple choice questions, each question includes hints and explanations. Ace your exam with confidence!

Wolfram Syndrome is associated with a combination of urinary tract problems, diabetes insipidus, and optic atrophy. This genetic disorder, often inherited in an autosomal recessive manner, typically presents in childhood or early adulthood.

The presence of diabetes insipidus is indicative of a defect in the mechanisms that manage fluid balance in the body, often due to damage to the hypothalamus or posterior pituitary, which can be seen in Wolfram Syndrome. Optic atrophy, characterized by the degeneration of the optic nerve, leads to vision problems, a common complication in individuals with this syndrome. Additionally, urinary tract issues can arise from the involvement of various organs and systems due to the overarching effects of the condition on neural and endocrine pathways.

In contrast, Wiskott-Aldrich Syndrome is primarily known for its triad of symptoms: eczema, recurrent infections due to immunodeficiency, and thrombocytopenia (low platelet count). Treacher Collins Syndrome, meanwhile, primarily affects facial development and structure without direct links to urinary tract problems or diabetes insipidus. Stickler Syndrome is generally characterized by issues related to connective tissue, leading to eye problems, hearing loss, and facial abnormalities rather than the specific symptoms noted in the question.

Subscribe

Get the latest from Examzify

You can unsubscribe at any time. Read our privacy policy