Alport syndrome is a rare genetic condition that leads to progressive kidney disease, hearing loss, and eye abnormalities. It is caused by a mutation in the genes COL4A3, COL4A4, or COL4A5 that provide instructions to build type 4 collagen, a connective tissue protein.

Different stages of kidney disease

Stages 1-2

At these stages, external symptoms are not noticeable. Diet should be changed by limiting sodium and protein intake and by eating vegetables, fruits, and whole grains. Blood pressure, cholesterol, and blood sugar need to be controlled. Regular exercise is recommended, and it is strongly advised not to smoke. The glomerular filtration rate (GFR), a measure of how well the kidneys work, needs to be checked regularly.

Stage 3

Patients with stage 3 kidney disease show clear symptoms, including kidney pain, extreme fatigue, changes in urine color and fluid retention. Patients should consult a nephrologist (kidney specialist) and a dietician who can help with dietary changes. At stage 3, patients need to limit their phosphorous and calcium consumption.

Stage 4

At stage 4, in addition to the symptoms from previous stages, patients start to experience a foul, metallic taste in their mouth and bad breath, which is due to excess urea in the blood. Red blood cell count goes down, and patients may become anemic. Patients at stage 4 should prepare for dialysis and kidney transplants.

Stage 5

Patients in stage 5 frequently lose appetite and experience limited urine output. The only treatment options at this stage are dialysis and kidney transplant. It is essential to limit potassium intake and monitor it carefully. Vitamins are frequently prescribed.

Treatment of kidney disease

Kidney disease is treated with ACE inhibitors, medications that lower blood pressure and help to delay kidney failure in Alport syndrome patients. Treatment with ACE inhibitors is recommended independently from the stage of kidney disease or GFR. It should be initiated when the urine protein to creatinine ratio is above 0.2. Protein levels are measured by a simple urine test, and regular measurements should start at one year of age and repeated at least annually.

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Alport Syndrome News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.