Polycystic kidney, infantile type
ICD-10 Q61.1 is a billable code used to indicate a diagnosis of polycystic kidney, infantile type.
Polycystic kidney disease (PKD) is a genetic disorder characterized by the development of numerous cysts in the kidneys, leading to renal dysfunction. The infantile type, also known as autosomal recessive polycystic kidney disease (ARPKD), typically presents in infancy or early childhood. This condition is caused by mutations in the PKHD1 gene, which affects the development of the renal tubules and bile ducts. Clinically, infants may present with abdominal distension, hypertension, and respiratory distress due to enlarged kidneys. The cysts can lead to renal failure, necessitating early intervention, including possible dialysis or kidney transplantation. Diagnosis is often confirmed through imaging studies such as ultrasound, which reveals enlarged kidneys filled with cysts. Management focuses on supportive care and monitoring for complications, including hypertension and urinary tract infections. Early diagnosis and intervention are crucial for improving outcomes in affected infants.
Detailed clinical notes including growth parameters, renal function tests, and imaging results.
Infants presenting with abdominal distension and hypertension, requiring nephrology referral.
Consideration of family history and genetic counseling for parents.
Genetic testing results, family pedigree, and counseling notes.
Assessment of infants with suspected PKD and family history of renal disease.
Documentation of genetic mutations and implications for family members.
Used to evaluate kidney size and cyst formation in suspected PKD.
Include indication for ultrasound and findings.
Pediatric ultrasound protocols may differ from adult protocols.
Accurate coding of Q61.1 is crucial for appropriate reimbursement, tracking of congenital conditions, and ensuring that patients receive the necessary care and interventions for polycystic kidney disease.
