Medullary cystic disease

Medullary Cystic Disease
Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Polyuria, Polydipsia, Nocturia, Fatigue (medical), Hypertension
Complications	Chronic kidney disease, End-stage renal disease
Onset	Adolescence or early adulthood
Duration	Long-term
Types	N/A
Causes	Genetic mutations
Risks	N/A
Diagnosis	Genetic testing, Ultrasound, CT scan
Differential diagnosis	N/A
Prevention	N/A
Treatment	Supportive care, Kidney transplant
Medication	N/A
Prognosis	Variable
Frequency	Rare
Deaths	N/A

Medullary Cystic Disease is a rare genetic disorder that affects the kidneys, leading to the formation of cysts in the medulla of the kidneys. This condition is characterized by the progressive loss of kidney function, often resulting in chronic kidney disease and potentially leading to end-stage renal disease.

Signs and Symptoms

Individuals with Medullary Cystic Disease typically present with symptoms such as polyuria (excessive urination), polydipsia (excessive thirst), and nocturia (frequent urination at night). Other symptoms may include fatigue (medical), hypertension (high blood pressure), and anemia.

Causes

Medullary Cystic Disease is caused by genetic mutations that are inherited in an autosomal dominant pattern. Mutations in the MUC1 or UMOD genes are commonly associated with this condition.

Diagnosis

Diagnosis of Medullary Cystic Disease involves a combination of genetic testing, ultrasound imaging, and CT scan to identify the presence of cysts and assess kidney function. A detailed family history is also important to identify potential hereditary patterns.

Treatment

There is no cure for Medullary Cystic Disease, and treatment focuses on managing symptoms and slowing the progression of kidney damage. Supportive care includes controlling blood pressure, managing electrolyte imbalances, and addressing anemia. In advanced cases, a kidney transplant may be necessary.

Prognosis

The prognosis for individuals with Medullary Cystic Disease varies depending on the severity of the condition and the rate of progression of kidney damage. Early diagnosis and management can help improve outcomes and quality of life.

See Also

• Chronic kidney disease
• Kidney transplant
• Genetic disorder

External Links

• [Medullary Cystic Disease Foundation](https://www.medullarycysticdisease.org)