Causes of Nephronophthisis
The progressive destruction of kidney tubules is characterized by nephronophthisis, a rare genetic disorder.
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Mutations in kidney-related ciliary proteins
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In most cases, autosomal recessive inheritance is responsible
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It is often associated with other genetic syndromes such as Senior-Løken syndrome
Symptoms of Nephronophthisis
The following symptoms usually appear during childhood or adolescence:
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Excessive urination (polyuria)
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Excessive thirst (polydipsia)
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Aplastic anemia
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Retardation of growth
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Blood pressure (hypertension)
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End-stage renal disease (ESRD) is caused by kidney failure
Diagnosis of Nephronophthisis
Diagnosis involves:
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Review of medical history, focusing on kidney disease in the family
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Checking for kidney damage during a physical examination
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Tests to assess kidney function and electrolyte levels in the blood
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Tests to evaluate proteinuria and urine concentration in the urine
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An ultrasound or CT scan can be used to assess the structure of the kidney
Treatment of Nephronophthisis
The goal of treatment is to manage symptoms and slow the progression of the disease:
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Control of blood pressure with medications (e.g., ACE inhibitors or ARBs)
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Complications such as anemia and electrolyte imbalances can be treated
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Low-salt and low-protein diets are among the dietary modifications available
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ESRD patients may require dialysis or kidney transplantation
Prevention of Nephronophthisis
Early detection and genetic counseling are the main preventative measures:
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Nephronophthisis genetic counseling for families
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Couples at risk of passing on genetic mutations should undergo prenatal testing
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Keeping an eye out for early signs of kidney dysfunction through regular medical checkups
Including its causes, symptoms, diagnosis, treatment options, and prevention strategies, this straightforward overview discusses nephronophthisis in detail.
