Renal dysplasia

Renal dysplasia is a congenital disorder of the kidney where the organ does not fully develop in the womb. It is a common cause of chronic kidney disease in children.

Etiology

The exact cause of renal dysplasia is unknown, but it is believed to be due to a combination of genetic and environmental factors. Some cases have been linked to mutations in the PAX2 gene, which is involved in kidney development.

Pathophysiology

In renal dysplasia, the kidney does not develop normally in the womb. Instead of forming normal nephrons, the basic functional units of the kidney, the organ forms cysts and primitive structures. This leads to a decrease in the number of functioning nephrons, which can result in kidney disease.

Clinical Presentation

Symptoms of renal dysplasia can vary widely, depending on the severity of the condition. Some individuals may have no symptoms, while others may experience hypertension, proteinuria, and chronic kidney disease. In severe cases, renal dysplasia can lead to end-stage renal disease, requiring dialysis or a kidney transplant.

Diagnosis

Renal dysplasia is often diagnosed prenatally through an ultrasound examination. After birth, the diagnosis can be confirmed through a renal biopsy, which can show the characteristic cysts and primitive structures of the condition.

Treatment

There is no cure for renal dysplasia, and treatment is focused on managing symptoms and slowing the progression of kidney disease. This can include medications to control hypertension and proteinuria, as well as dietary modifications. In severe cases, dialysis or a kidney transplant may be necessary.

Prognosis

The prognosis for individuals with renal dysplasia can vary widely, depending on the severity of the condition and the individual's response to treatment. Some individuals may live a normal life with minimal symptoms, while others may develop end-stage renal disease and require a kidney transplant.

See Also

• Congenital disorders
• Chronic kidney disease
• End-stage renal disease
• Kidney transplant

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