Question 254 · LEK · Glomerular diseases

Indicate the true information on Alport’s syndrome of sex-linked inheritance:

1) it is caused by inherited defect in alpha 5 collagen IV chain synthesis and leads to end-stage renal disease;
2) women (heterozygotes) are healthy gene carriers or they have only mild symptoms;
3) haematuria and proteinuria occur in men at around 10 years of age;
4) therapy with cyclosporine inhibits the development of the disease;
5) angiotensin converting enzyme inhibitors are used to decrease proteinuria.
The correct answer is:
  1. A. 1,3,5.
  2. B. 1,3,4.
  3. C. 1,4,5.
  4. D. 1,2,5.
  5. E. 2,4,5.
Hint

Consider which sex is fully affected in an X-linked disease, when hematuria first appears, and which drugs are nephroprotective rather than nephrotoxic.

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