Which ONE of the following choices best describes the clinical course that this patient is most likely to follow?

By DR. RAM - MEDCASE PHYSICIAN EDITOR | Jul 6, 2020

The mother of a 20-yr-old white man seeks your advice regarding prognosis and future treatment of her son who has recently been diagnosed as having Alport syndrome. Her husband is healthy, but her grandfather died of “Bright’s Disease.” Her son currently has mild sensorineural hearing impairment, lenticonus, and well-controlled hypertension (BP, 130/82 mmHg) on an ACE inhibitor. His serum creatinine is 1.4 mg/dl, and his protein excretion is 1.0 g/d. One year ago, he underwent genetic testing as a part of a research study and was found to have a large deletion mutation of the COL4A5 gene of the X-chromosome.

His renal failure is not likely to progress, and renal transplantation will not be needed.
His renal failure is likely to progress, and renal transplantation can be considered to be associated with a low risk (5%) of posttransplant glomerulonephritis
His renal failure is likely to progress, and renal transplantation would be associated with a moderate risk (15% or more) of posttransplant glomerulonephritis
His renal failure is likely to progress, but his hearing impairment is not likely to progress
His renal failure is likely to progress, and renal transplantation would be associated with a high probability of recurrent disease.

Explanation:

This patient has the classic from of Alport syndrome (Hereditary nephritis with deafness) due to a mutation (large deletion) of the COL4A5 gene on the X-Chromosome. Large deletion mutations of this gene have been associated with progressive renal disease and a substantially higher risk of the development of anti-glomerular basement membrane (GBM) auto-antibody induced glomerulonephritis in the renal allograft. In patients with this type of mutation the risk of anti-GBM nephritis in the allograft may be as high as 15%. Nearly all such post-transplant glomerulonephritis occurs in patients with the large deletion type of mutation.

Jais JP, Knebelmann B, Giatras I, et al: X-linked Alport syndrome: Natural history in 195 families and genotype- phenotype correlations in males. J Am Soc Nephrol 11: 649-657, 2000

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Which ONE of the following choices best describes the clinical course that this patient is most likely to follow?

Explanation:

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