منابع مشابه
Dehydrated hereditary stomatocytosis with transient perinatal ascites.
The case is reported of a mother and baby with dehydrated hereditary stomatocytosis and perinatal ascites, an autosomal dominant condition not previously reported in Britain. Recognition is important for the management of pregnancy and for avoidance of splenectomy which, if performed, can predispose the patient to fatal thromboembolic events.
متن کاملDehydrated hereditary stomatocytosis masquerading as MDS.
A 23-year-old man presented to our clinic for a second opinion. He was given the diagnosis of myelodysplastic syndrome (MDS) years prior, based on a history of iron overload and bone marrow biopsy findings of a hypercellular marrow with erythroid hyperplasia and dysmegakaryopoiesis. Further history revealed intermittent jaundice and scleral icterus. His physical examination was notable for shor...
متن کاملGenetic heterogeneity of hereditary stomatocytosis syndromes showing pseudohyperkalemia.
genes (genetic heterogeneity). Mapping of the DHSt and FP genes7,9 now allows us to address this problem by means of a linkage analysis. Genomic DNA was obtained from each member of a pedigree described elsewhere.9 Linkage analysis was performed using 8 microsatellite markers (D16S511, D16S3037, D16S520, D16S498, D16S3074, D16S3026, D16S3121) from the chromosome 16 region where we have previous...
متن کاملCharacteristics of the membrane defect in the hereditary stomatocytosis syndrome.
Cation permeability and lipid composition have been studied in the red cells of five patients with various features of the hereditary stomatocytosis syndrome. Hemolysis was compensated in four patients, and only one patient was anemic. Cell NA+ was increased an average of 3 mueq per ml cells and cell K+ decreased 14 mueq per ml cells. Both active and passive fluxes of Na+ and K+ were increased ...
متن کاملAlterations of red blood cell metabolome in overhydrated hereditary stomatocytosis.
Overhydrated hereditary stomatocytosis, clinically characterized by hemolytic anemia, is a rare disorder of the erythrocyte membrane permeability to monovalent cations, associated with mutations in the Rh-associated glycoprotein gene. We assessed the red blood cell metabolome of 4 patients with this disorder and showed recurrent metabolic abnormalities associated with this disease but not due t...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: International Journal of Case Reports and Images
سال: 2017
ISSN: 0976-3198
DOI: 10.5348/ijcri-201714-cl-10124