PowerPoint Presentation Week 9 Congenital WBC PowerPoint演示文稿周9先天性白细胞.pptVIP

Week 9: Congenital WBC Problems Pelger-Hu?t Chediak-Higashi Alder-Reilly Muco-polysaccharidosis Hurler’s and Hunter’s May-Hegglin Myeloperoxidase deficiency Lipid storage disorder Gaucher’s Niemann-Pick Tay-Sach’s Fabry’s Sea-blue histiocytosis Pelger-Hu?t Anomaly Autosomal dominant 1:5,000 Benign Hypolobulation of PMN, pince-nez What is a band? Pseudo PH in myelodysplasia (MDS) and some infection Chediak-Higashi Disease Rare autosomal recessive Abnormal lysosome: myeloperoxidase positive fused 1o granules Impaired PMN locomotion Hypopigmentation, photophobia Usually die at 5-10 years of age due to opportunistic and pyrogenic infections Alder-Reilly Anomaly Mucopolysaccharidosis Autosomal recessive Hurler’s and Hunter’s diseases Azurophilic granules in one or all cell types Vacuolated lymphocytes with granules or “comma” Resemble toxic granulations May-Hegglin Anomaly Rare autosomal dominant D?hle-like inclusions Thrombocytopenia and giant platelets and few granules (cause of bruises) Myeloperoxidase deficiency Autosomal recessive Enzyme is one of bacterial killing pathway, but usually benign because other PMN biochemistry fight infection H2O2 ? HOCl (hypochlorite) Abnormal pattern in MPO based instrument (eg, Technicon H-1) Acquired form in some AML, CML and MDS Gaucher’s Disease A kind of lipid storage disease ?-glucocerebrosidase deficiency Macrophage (wrinkled, striated) with lipid in lymph nodes, spleen, liver Type 2 (infantile) and type 3 (juvenile) have worse prognosis Type 1 (adult) can live longer Pseudo-Gaucher cell seen in CML with cholesterol from cell turn over Niemann-Pick Disease Sphingomyelinase deficiency Foamy macrophages with ceroid and sphingomyelin Many seen in Ashkenazic Jews Commonly fatal by 3 years Vacuolated lymphocytes and monocytes Tay-Sach’s Disease Recessive ?-hexosaminidase deficiency Accululation of gangliosides and glycolipids Affect CNS Fabry’s Disease X-linked recessive sphyngolipidosis ?-galactosidase deficiency Ceramide trihexose