Monitoring

Once a diagnosis of Alport syndrome has been confirmed, patients should be managed by a specialist, usually a nephrologist.

  • Patients should be reviewed dependent on the presence of hypertension and the degree of renal impairment present. Early detection, treatment with ACE inhibitors according to guidelines and treatment of the complications of Alport syndrome are likely to improve quality of life and life expectancy.[30][47]​ Particular attention should be paid to cardiovascular complications, which are the most common cause of morbidity and mortality in chronic kidney disease. In children with chronic kidney disease, monitoring of growth is also essential.

  • Once hypertension is diagnosed the treatment should be ongoing. Patients with hypertension should be followed up every 6-12 months to ensure BP is controlled (i.e., <130/80 mmHg). Additional monitoring may be necessary as complications arise.

  • Patients should be referred to a nephrologist according to local guidelines dependent on the level of renal function. This will allow for monitoring of the rate of decline of renal function, adjustment of diet and antihypertensive medications, preparation for renal replacement therapy and management of the metabolic abnormalities associated with chronic kidney disease progression. Additional therapies for proteinuria may also be considered.

  • Early referral to a nephrologist is likely to lead to an improvement in estimated GFR. A longer duration of regular nephrology care in the nonchronic kidney disease period is associated with decreased hospitalization and better long-term survival once the patient begins dialysis. GFR MDRD calculators for adults Opens in new window

  • Patients with chronic kidney disease should be screened for anemia and bone mineral disorders at least every 6 to 12 months, with a hemoglobin, calcium, phosphorus, and intact parathyroid hormone (see Chronic kidney disease).

  • Depression is frequent among patients with chronic kidney disease. It has a significant impact on morbidity and mortality, justifying awareness and screening.

  • Lenticonus (bulging of the lens capsule and the underlying cortex), present in 10% to 15% of patients, is associated with more rapid progression to chronic kidney disease and loss-of-function mutations in the COL4A5 gene.[2][3]​​ Lenticonus in children should also be followed up regularly by an ophthalmologist.

  • Hearing should be monitored by an audiologist from around ages 5 years in males with X-linked Alport syndrome and all children with autosomal-recessive Alport syndrome. Indications for earlier referral or referral of other patients with Alport syndrome include overt proteinuria, failure of hearing screen, speech delay, or patient/family concern about hearing loss.[3]

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