Medullary cystic kidney disease

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Medullary cystic kidney disease
Synonyms	MCKD
Pronounce	N/A
Specialty	Nephrology
Symptoms	Polyuria, polydipsia, nocturia, hypertension, anemia, renal failure
Complications	Chronic kidney disease, end-stage renal disease
Onset	Typically in adulthood
Duration	Chronic
Types	N/A
Causes	Genetic mutation
Risks	Family history of the condition
Diagnosis	Genetic testing, ultrasound, CT scan, MRI
Differential diagnosis	Polycystic kidney disease, nephronophthisis
Prevention	N/A
Treatment	Supportive care, dialysis, kidney transplant
Medication	Antihypertensives, erythropoietin
Prognosis	Progressive, leading to end-stage renal disease
Frequency	Rare
Deaths	N/A

Anatomy of the kidney

Illustration of a nephron

Chromosome 16 from a human male karyotype

Focal segmental glomerulosclerosis under intermediate magnification

Medullary Cystic Kidney Disease (MCKD) is a rare hereditary condition characterized by the formation of cysts in the medulla of the kidney. It is also known as familial juvenile nephronophthisis or UMOD-related kidney disease.

Symptoms

The symptoms of MCKD usually appear in adulthood and may include polyuria, polydipsia, and anemia. As the disease progresses, patients may develop end-stage renal disease (ESRD).

Causes

MCKD is caused by mutations in the UMOD gene. This gene provides instructions for making a protein called uromodulin, which is the most abundant protein in the urine under normal conditions. Mutations in the UMOD gene lead to the production of an abnormal uromodulin protein that can form clumps inside the kidney cells, leading to the formation of cysts.

Diagnosis

The diagnosis of MCKD is based on the clinical symptoms, family history, and genetic testing. Ultrasound and computed tomography (CT) scans can also be used to detect cysts in the kidneys.

Treatment

There is currently no cure for MCKD. Treatment is focused on managing the symptoms and slowing the progression of the disease. This may include medications to control blood pressure and cholesterol levels, as well as dietary modifications.

Prognosis

The prognosis for individuals with MCKD varies. Some individuals may live a normal lifespan with minimal symptoms, while others may develop ESRD and require dialysis or a kidney transplant.

See also

• Polycystic kidney disease
• Kidney disease
• Genetic disorder

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