Medullary cystic kidney
ICD-10 Q61.5 is a billable code used to indicate a diagnosis of medullary cystic kidney.
Medullary cystic kidney disease is a rare genetic disorder characterized by the presence of cysts in the renal medulla, leading to progressive renal dysfunction. This condition is often inherited in an autosomal dominant pattern and is associated with a gradual decline in kidney function, typically manifesting in adolescence or early adulthood. Patients may present with symptoms such as polyuria, nocturia, and hypertension. The cysts develop in the renal medulla and can lead to renal tubular dysfunction, resulting in electrolyte imbalances and metabolic acidosis. Diagnosis is often confirmed through imaging studies, such as ultrasound or MRI, which reveal the characteristic cystic changes in the kidneys. Genetic testing may also be utilized to identify mutations in genes associated with the condition. Management focuses on monitoring renal function, controlling blood pressure, and addressing complications as they arise. In severe cases, renal replacement therapy may be necessary.
Pediatric documentation should include growth parameters, developmental milestones, and specific renal function tests.
Common scenarios include routine monitoring of renal function in children with known familial history of medullary cystic kidney disease.
Consideration must be given to the age of onset and the impact on growth and development.
Genetic documentation should include details of genetic counseling sessions, test results, and family pedigree.
Scenarios may involve genetic counseling for families with a history of medullary cystic kidney disease.
Accurate coding requires understanding of the genetic basis and inheritance patterns.
Used when genetic confirmation of the diagnosis is required.
Documentation of clinical suspicion and family history.
Genetic counseling may be necessary for families.
Genetic testing is crucial for confirming the diagnosis, understanding inheritance patterns, and providing appropriate counseling for affected families.
