Final answer:
The patient's symptoms and lab findings suggest a diagnosis of Hemophilia, a genetic bleeding disorder. Treatment involves factor replacement therapy and lifestyle modifications to prevent bleeding episodes. Mixing studies were crucial in making the diagnosis by suggesting a clotting factor deficiency rather than an inhibitor presence.
Step-by-step explanation:
Clinical Diagnosis and Treatment
The symptoms presented by the 7-year-old male patient, including recurrent bruising, hematuria, and hemarthrosis, along with an increased PTT (Partial Thromboplastin Time) that corrected with mixing studies, are suggestive of a bleeding disorder, possibly Hemophilia. Hemophilia is a genetic disorder that affects the blood's ability to clot due to deficient or defective clotting factors.
Treatment for Hemophilia typically involves replacing the missing clotting factors, known as factor replacement therapy. This can be done on a regular schedule (prophylaxis) or as needed (on-demand). Additionally, patients should be educated on avoiding activities that could cause bleeding or injury.
Importance of Mixing Studies
Mixing studies help differentiate between factor deficiencies and the presence of inhibitors. When PTT corrects upon mixing the patient's plasma with normal plasma, it suggests a deficiency of clotting factors as seen in hemophilia, rather than the presence of an inhibitor.