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Genetic disorder characterized by platelet disorder, renal failure, and sensorineural deafness.

Alport Syndrome with Macrothrombocytopenia; Alport Syndrome Type V; Macrothrombocytopathy, Nephritis, and Deafness.

Epstein Syndrome can also refer to a disorder associated with splenomegaly, high platelet count, and prolonged bleeding time. This disorder has also been termed Di Guglielmo Disease II or Di Guglielmo Syndrome, Epstein-Goedel Syndrome, Mortensen Disease/Syndrome, or Revol Disease/Syndrome.

First reported in two families by C.J. Epstein in 1972.

Unknown; however, more than 30 families have been reported. No sexual predilection has been reported.

Autosomal dominant with the genetic defect mapping to 22q11.2.

The bleeding tendency is a result of thrombocytopenia and the presence of a majority of giant spheroid platelets with a disorganized microtubular system and a lesser number of normal-size discoid platelets. Renal dysfunction occurs secondary to proliferative and sclerosing glomerulonephritis with interstitial nephritis and fibrosis. Hearing loss is gradual and of sensorineural etiology.

Based on family history, clinical features, hematologic and nephrologic studies, and auditory examination. Hematologic studies reveal thrombocytopenia, prolonged bleeding time, and the above described giant platelets with abnormal ultrastructure, impaired platelet aggregation response to collagen and epinephrine, defective platelet adherence to glass, and impaired release of platelet factor III. The renal abnormality mainly manifests as proteinuria, which remains stable with normal renal function, although deterioration as a result of episodes of acute glomerulonephritis has been described.

Patients may develop multiple ecchymoses when they start walking and recurrent episodes of epistaxis beginning in early childhood. Bleeding from other sites is rare and usually not significant. High-frequency sensorineural hearing loss becomes noticeable by approximately 5 to 8 years of age, and progression to almost complete deafness may occur around the middle of the second decade of life. Proteinuria begins in childhood, usually without impairment of renal excretory function. In rare cases, episodes similar to acute glomerulonephritis occur.

Laboratory investigations should include a complete blood count and coagulation studies, including bleeding time, platelet count, and a blood smear (thrombocytopenia and ultrastructural and functional studies showing macrothrombocytopathy). Preoperative and intraoperative platelet transfusions are often required, and packed red blood cells should be easily available. Evaluate renal function with serum concentrations of electrolytes, creatinine, urea, and urine analysis (proteinuria is common, and hematuria or red blood cell casts suggest nephritis), and obtain a nephrology consult if necessary. If renal function is severely altered (rare), check cardiac function with electrocardiogram (arrhythmias as a result of electrolyte abnormalities), and further testing such as echocardiography (with or without dobutamine-stress test) may be necessary to detect decreased cardiac function secondary to long-standing uremia.

Platelets transfusions should be available in the operating room before any invasive procedure. Avoid regional anesthesia. In case of renal failure (rare), attempt to optimize the patient's preoperative and intraoperative fluid and acid-base status. If large volume shifts and/or blood ...

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