Medullary cystic kidney Save
ICD-10 code: Q61.5
Chapter: Congenital malformations, deformations and chromosomal abnormalities
Understanding Medullary Cystic Kidney Disease
Medullary Cystic Kidney Disease (MCKD) is a rare genetic disorder where cysts develop in the kidneys, leading to kidney failure. The cysts gradually replace the normal kidney tissue, leading to a loss of kidney function. MCKD is also referred to as Nephronophthisis.
The disease is inherited in an autosomal dominant manner, meaning that a person only needs to inherit one copy of the faulty gene from one parent to develop the disease.
Symptoms of Medullary Cystic Kidney Disease
Most people with MCKD do not display any symptoms until their kidney function starts to decline. The symptoms include:
- High blood pressure
- Increased urination at night
- Swelling in the feet and ankles
- Feeling tired and weak
- Loss of appetite
As the disease progresses, the symptoms become more severe, and the patient may experience:
- Shortness of breath
- Itching
- Confusion
- Seizures
- Coma
Diagnosis and Treatment
The diagnosis of MCKD is made through a combination of patient history, physical examination, blood tests, and imaging studies. The imaging studies may include ultrasound, CT scans, or MRI scans of the kidneys.
There is no cure for MCKD, and treatment is aimed at slowing down the progression of the disease and managing the symptoms. The treatment options include:
- Controlling high blood pressure with medication
- Dialysis to remove waste products from the blood
- Kidney transplant
It is essential to seek medical attention if you have a family history of MCKD or experience any of the symptoms associated with the disease. Early diagnosis and treatment can help to slow down the progression of the disease and improve the quality of life of the patient.
In conclusion, Medullary Cystic Kidney Disease is a rare genetic disorder that affects the kidneys. It is inherited in an autosomal dominant manner and leads to the development of cysts in the kidneys, leading to kidney failure. The symptoms include high blood pressure, increased urination at night, and swelling in the feet and ankles. There is no cure for the disease, and treatment is aimed at slowing down the progression of the disease and managing the symptoms.