Adenosine deaminase deficiency, unspecified
ICD-10 D81.30 is a billable code used to indicate a diagnosis of adenosine deaminase deficiency, unspecified.
Adenosine deaminase deficiency (ADA deficiency) is a rare autosomal recessive disorder characterized by a deficiency of the enzyme adenosine deaminase, which is crucial for the metabolism of purines. This deficiency leads to the accumulation of toxic metabolites, particularly deoxyadenosine and deoxyadenosine triphosphate, which are detrimental to lymphocytes. The condition primarily affects the immune system, resulting in severe combined immunodeficiency (SCID) in affected individuals. Patients typically present in infancy with recurrent infections, failure to thrive, and lymphopenia. The diagnosis is confirmed through enzyme activity assays and genetic testing. Treatment options include enzyme replacement therapy, gene therapy, and hematopoietic stem cell transplantation. The unspecified nature of this code indicates that the specific type or severity of the deficiency has not been documented, which can complicate treatment and management strategies.
Detailed history of recurrent infections, growth parameters, and laboratory results.
Infants presenting with failure to thrive and recurrent infections.
Ensure thorough documentation of immunological assessments and treatment plans.
Complete blood counts, lymphocyte subset analysis, and enzyme activity levels.
Patients undergoing evaluation for immunodeficiency with abnormal lymphocyte counts.
Document any co-existing hematological conditions that may complicate the diagnosis.
Used for confirming diagnosis in suspected cases of ADA deficiency.
Document the reason for testing and results.
Pediatric specialists should ensure comprehensive documentation of clinical findings.
Adenosine deaminase deficiency is primarily caused by mutations in the ADA gene, which is responsible for producing the enzyme adenosine deaminase.
