Hydrops fetalis associated with erythrocyte pyruvate kinase deficiency
نویسندگان
چکیده
منابع مشابه
Erythrocyte pyruvate kinase deficiency: 2015 status report
Over the last several decades, our understanding of the genetic variation, pathophysiology, and complications of the hemolytic anemia associated with red cell pyruvate kinase deficiency (PKD) has expanded. Nonetheless, there remain significant gaps in our knowledge with regard to clinical care and monitoring. Treatment remains supportive with phototherapy and/or exchange transfusion in the newb...
متن کاملErythrocyte pyruvate kinase deficiency among anemic individuals in Bandar Abbas, Iran
Introduction: In addition to G6PD deficiency, human erythrocyte pyruvate kinase (PK-R) deficiency is one of the most common causes of non-spherocytic hemolytic anemia. Clinical severity of this disorder is not the same in homozygote form of this disease and ranges from mild to chronic and anemia; so it has a wide variation. Severely effected individuals require blood transfusions or splenectomy...
متن کاملRecurrent fatal hydrops fetalis associated with a nucleotide substitution in the erythrocyte beta-spectrin gene.
We studied a kindred in which four third-trimester fetal losses occurred, associated with severe Coombs-negative hemolytic anemia and hydrops fetalis. Postmortem examination of two infants revealed extensive extramedullary erythropoiesis. Studies of erythrocytes and erythrocyte membranes from the parents revealed abnormal erythrocyte membrane mechanical stability as well as structural and funct...
متن کاملRecurrent Fatal Hydrops Fetalis Associated with a Nucleotide Substitution in the Erythrocyte , 8 - Spectrin Gene
We studied a kindred in which four third-trimester fetal losses occurred, associated with severe Coombs-negative hemolytic anemia and hydrops fetalis. Postmortem examination of two infants revealed extensive extramedullary erythropoiesis. Studies of erythrocytes and erythrocyte membranes from the parents revealed abnormal erythrocyte membrane mechanical stability as well as structural and funct...
متن کاملCongenital hypothyroidism and nonimmune hydrops fetalis: associated?
Hydrops fetalis (HF) consists of an abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema. Almost all observed cases of HF are of the nonimmune type, the causes of which remain undetermined in 15% of patients. We report a newborn infant with nonimmune hydrops fetalis (NIHF) and congenital hypothyroidism. The i...
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ژورنال
عنوان ژورنال: European Journal of Pediatrics
سال: 2000
ISSN: 0340-6199,1432-1076
DOI: 10.1007/s004310051314