ABSTRACT
INTRODUCTION: The Imerslund-Gräsbeck syndrome is a rare hereditary autosomal recessive disease, characterized by the onset of megaloblastic anemia and asymptomatic proteinuria during the first 2 years of life. OBJECTIVE: To emphasize the importance of early detection of this disorder, due to high morbidity when not correctly treated, in addition to the necessity of screening and genetic counseling of the asymptomatic family members. METHODS: The authors report two patients, male and female, 8 and 10 years old, respectively. Their past history revealed anemia and multiple blood transfusions since their infancy. They evolved with pancytopenia during childhood and diagnosis of Severe Aplastic Anemia or Fanconi Syndrome was suspected. They were referred to the Bone Marrow Transplantation Section -HC- UFPR. RESULTS: Laboratory investigations revealed pancytopenia in peripheral blood. Bone marrow aspiration showed a marked megaloblastic erythropoiesis. Twenty-four-hour urine collection revealed proteinuria (3.0 and 5.8 g/dl respectively). Cytogenetic analysis was normal. Resolution of symptoms followed replacement therapy with parenteral vitamin B12. CONCLUSIONS: The presence of megaloblastic anemia in children should be followed by investigation of proteinuria, due to the existence of this rare disorder, that has a simple diagnosis and an effective treatment.
ABSTRACT
Thirty-seven patients with acute promyelocytic leukemia (APL) were treated with all-trans retinoic acid (ATRA). Patients received 45 mg m-2 day-1 po of ATRA until complete remission (CR) was achieved, defined as: a) presence of less than 5 percent blasts in the bone marrow, with b) white blood cells >103/mm3, c) platelets >105/mm3 and d) hemoglobin concentration >8 g/dl, with no blood or platelet transfusions. Thirty-one (83.7 percent) patients achieved CR by day 50, and 75 percent of these before day 30. Correction of the coagulopathy, achieved between days 2 and 10 (mean, 3 days), was the first evidence of response to treatment. Only one patient had been previously treated with chemotherapy and three had the microgranular variant M3 form. Dryness of skin and mucosae was the most common side effect observed in 82 percent of the patients. Thrombosis, hepatotoxicity and retinoid acid syndrome (RAS) were observed in 7 (19 percent), 6 (16 percent) and 4 (11 percent) patients, respectively. Thirteen (35 percent) patients had to be submitted to chemotherapy due to hyperleukocytosis (above 40 x 103/mm3) and six of these presented with new signs of coagulopathy after chemotherapy. Four (11 percent) patients died secondarily to intracerebral hemorrhage (IH) and two (5.4 percent) dropped out of the protocol due to severe ATRA side effects (one RAS and one hepatotoxicity). RAS and IH were related strictly to hyperleukocytosis. The reduced use of platelets and fresh frozen plasma probably lowered the total cost of treatment. We conclude that ATRA is an effective agent for inducing complete remission in APL patients
Subject(s)
Humans , Female , Child , Middle Aged , Adolescent , Adult , Antineoplastic Agents/therapeutic use , Leukemia, Promyelocytic, Acute/drug therapy , Tretinoin/therapeutic use , Health Care Costs , Remission Induction , Tretinoin/adverse effectsABSTRACT
Thirty-seven patients with acute promyelocytic leukemia (APL) were treated with all-trans retinoic acid (ATRA). Patients received 45 mg m-2 day-1 po of ATRA until complete remission (CR) was achieved, defined as: a) presence of less than 5% blasts in the bone marrow, with b) white blood cells > 10(3)/mm3, c) platelets > 10(5)/mm3 and d) hemoglobin concentration > 8 g/dl, with no blood or platelet transfusions. Thirty-one (83.7%) patients achieved CR by day 50, and 75% of these before day 30. Correction of the coagulopathy, achieved between days 2 and 10 (mean, 3 days), was the first evidence of response to treatment. Only one patient had been previously treated with chemotherapy and three had the microgranular variant M3 form. Dryness of skin and mucosae was the most common side effect observed in 82% of the patients. Thrombosis, hepatotoxicity and retinoid acid syndrome (RAS) were observed in 7 (19%), 6 (16%) and 4 (11%) patients, respectively. Thirteen (35%) patients had to be submitted to chemotherapy due to hyperleukocytosis (above 40 x 10(3)/mm3) and six of these presented with new signs of coagulopathy after chemotherapy. Four (11%) patients died secondarily to intracerebral hemorrhage (IH) and two (5.4%) dropped out of the protocol due to severe ATRA side effects (one RAS and one hepatotoxicity). RAS and IH were related strictly to hyperleukocytosis. The reduced use of platelets and fresh frozen plasma probably lowered the total cost of treatment. We conclude that ATRA is an effective agent for inducing complete remission in APL patients.
