From the Guidelines
Patients with Alport syndrome should be monitored for key signs and symptoms including hematuria, proteinuria, progressive decline in kidney function, high blood pressure, hearing loss, and ocular abnormalities, as these are critical for early detection of complications and appropriate management. When evaluating patients with Alport syndrome, it is essential to consider the clinical evaluation of children with hematuria, as outlined in the study by 1, which emphasizes the importance of a meticulous history and physical examination to identify potential causes of hematuria. The study by 1 highlights the need to search for occult forms of trauma, family history of sickle cell disease or hemophilia, stone disease, hearing loss, familial renal disease, and hypertension, which are all relevant to Alport syndrome. Some key points to consider when evaluating patients with Alport syndrome include:
- Hematuria, which is often the earliest sign and may be microscopic or occasionally gross
- Proteinuria, which typically develops as the disease progresses
- Progressive decline in kidney function leading to chronic kidney disease and eventually end-stage renal disease
- High blood pressure, which often accompanies declining kidney function
- Hearing loss, typically affecting high-frequency sounds first before progressing to conversational frequencies
- Ocular abnormalities, including anterior lenticonus, retinal flecks, and cataracts
- Loin pain during episodes of gross hematuria Regular monitoring of kidney function, urinalysis, hearing tests, and eye examinations are crucial for early detection of complications and appropriate management, as suggested by the clinical evaluation guidelines outlined in 1.
From the Research
Signs and Symptoms of Alport Syndrome
The following signs and symptoms should be looked for in patients with Alport's (Hereditary Nephritis) syndrome:
- Hematuria (blood in the urine) 2, 3, 4
- Proteinuria (excess protein in the urine) 2, 3, 4
- Progressive kidney failure 2, 3, 4
- Sensorineural deafness 5, 3, 6
- Ocular abnormalities 5, 3, 6
- Chronic kidney disease (CKD) 3, 4
Diagnostic Considerations
Diagnosis of Alport syndrome relies on:
Clinical Manifestations
Alport syndrome can manifest as:
- Kidney involvement, featuring persistent hematuria, proteinuria, and a progressive decline in renal function 3
- Extrarenal manifestations, including hearing loss, ocular abnormalities, and others 3, 6
- Variable disease severity, depending on the type of inheritance and genotype-phenotype correlations 5, 4, 6