Nephronophthisis (Kidney Genetic Disorder) ; Definition, causes, Symptoms, Diagnosis, Treatment

Nephronophthisis is a rare genetic disorder that affects the kidneys, leading to chronic kidney disease and eventually end-stage renal disease (ESRD). Here are some key points about nephronophthisis:

Characteristics
Inheritance: It is inherited in an autosomal recessive manner, meaning both parents must carry a copy of the mutated gene.

Types: There are three main types based on the age of onset: infantile, juvenile, and adult.

Ciliopathy: Nephronophthisis is classified as a ciliopathy, a disorder caused by defects in the cilia, which are tiny hair-like structures on cells that play a role in signaling and movement.

Symptoms
Polyuria: Excessive production of urine.

Polydipsia: Excessive thirst.

Fatigue: General weakness and tiredness.

Anemia: Low red blood cell count.

End-Stage Kidney Disease: Eventually, the kidneys fail to filter waste products from the blood, necessitating dialysis or a kidney transplant.

Diagnosis
Ultrasound: Imaging of the kidneys to detect cysts and assess kidney function.

Family History: Important for diagnosing genetic conditions.

Genetic Testing: Can confirm mutations in genes associated with nephronophthisis.

Treatment
Management of Symptoms: Treatment of symptoms such as hypertension (high blood pressure) and anemia.

Kidney Transplant: In cases of ESRD, a kidney transplant may be necessary.

Prognosis
Progressive Disease: Nephronophthisis leads to progressive kidney damage and eventually ESRD.

Early Detection: Early diagnosis and management can help improve quality of life and delay the progression of kidney failure.

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