Purine nucleoside phosphorylase [PNP] deficiency
ICD-10 D81.5 is a billable code used to indicate a diagnosis of purine nucleoside phosphorylase [pnp] deficiency.
Purine nucleoside phosphorylase (PNP) deficiency is a rare inherited disorder that affects the immune system. It is caused by mutations in the PNP gene, which is responsible for the breakdown of purine nucleosides. This deficiency leads to the accumulation of toxic metabolites, which can result in severe immunodeficiency. Patients with PNP deficiency often present with recurrent infections, failure to thrive, and lymphopenia, characterized by low levels of lymphocytes in the blood. The condition is typically diagnosed in infancy or early childhood through clinical evaluation and genetic testing. Management of PNP deficiency may include supportive care, such as prophylactic antibiotics and immunoglobulin replacement therapy, and in some cases, hematopoietic stem cell transplantation may be considered as a curative option. The prognosis varies depending on the severity of the immunodeficiency and the timing of intervention.
Detailed history of recurrent infections, growth parameters, and family history.
Infants presenting with failure to thrive and recurrent infections.
Documentation should include genetic testing results and any interventions undertaken.
Complete blood counts, lymphocyte subsets, and any relevant laboratory findings.
Patients with unexplained lymphopenia and recurrent infections.
Ensure that all laboratory results are clearly documented to support the diagnosis.
Used when confirming a diagnosis of PNP deficiency.
Documentation of clinical suspicion and rationale for testing.
Pediatric and hematology specialists should ensure thorough documentation.
Common symptoms include recurrent infections, failure to thrive, and low lymphocyte counts. Patients may also experience autoimmune complications.
