Hereditary hemolytic-uremic syndrome
ICD-10 D59.32 is a billable code used to indicate a diagnosis of hereditary hemolytic-uremic syndrome.
Hereditary hemolytic-uremic syndrome (HUS) is a rare genetic disorder characterized by the triad of hemolytic anemia, acute renal failure, and thrombocytopenia. This condition is often associated with enzyme deficiencies, particularly in the complement system, leading to uncontrolled activation and subsequent damage to the endothelial cells of the kidneys. Patients typically present with symptoms such as fatigue, pallor, and signs of renal impairment, including oliguria or anuria. Genetic factors play a significant role in the pathogenesis of hereditary HUS, with mutations in genes such as CFH (complement factor H) and CFI (complement factor I) being implicated. Diagnosis is confirmed through clinical evaluation, laboratory tests showing hemolytic anemia, and renal function tests. Management often involves supportive care, including hydration and blood transfusions, and in severe cases, renal replacement therapy may be necessary. Understanding the genetic basis of this condition is crucial for family planning and genetic counseling.
Detailed lab results showing hemolytic anemia and thrombocytopenia, genetic testing reports.
Patients presenting with unexplained anemia, renal failure, and low platelet counts.
Ensure genetic factors are documented to support hereditary classification.
Renal function tests, imaging studies, and treatment plans for renal failure.
Patients with acute renal failure and signs of hemolysis.
Document renal involvement and any dialysis requirements.
Used to evaluate hemolytic anemia in patients suspected of HUS.
Document all lab results and clinical findings.
Hematology specialists should ensure comprehensive lab documentation.
Hereditary hemolytic-uremic syndrome is primarily caused by genetic mutations affecting the complement system, leading to endothelial damage and hemolytic anemia.
