title: Primary hemophagocytic lymphohistiocytosis in Turkish children.
abstract: Nineteen children with hemophagocytic lymphohistiocytosis (HLH) were studied in the Department of Pediatric Hematology, Hacettepe University. Patients were divided into two groups. Group 1: Thirteen patients were classified as having a genetic etiology (7 familial, 6 presumed familial) on the basis of an affected sibling and consanguinity. There was a history of consanguineous marriage in 13 of the families. Seven of them had a history of a sibling with HLH. Group 2: Six patients were diagnosed with sporadic HLH. The age at presentation for familial patients was 0.7-84 months (mean 21.9 +/- 24.9 months), and for sporadic cases it was 2.5-48 months (mean 22.7 +/- 19.8 months). The clinical and laboratory data of these two groups were similar at diagnosis. Thirteen cases were diagnosed premortem by bone marrow aspiration. Splenic biopsy was performed in 2 patients. Four patients were diagnosed by postmortem examination. Elevated LDH levels were found in all patients tested. No significant differences for clinical and laboratory data were found between the two groups.
authors.affiliation: Hacettepe University, Faculty of Medicine, Department of Pediatrics, Ihsan Dogramaci Children's Hospital, Ankara, Turkey. agurgey@gen.hun.edu.tr
authors.forename: A
authors.initials: A
authors.lastname: Gürgey
authors.forename: S
authors.initials: S
authors.lastname: Göğüş
authors.forename: E
authors.initials: E
authors.lastname: Ozyürek
authors.forename: D
authors.initials: D
authors.lastname: Aslan
authors.forename: F
authors.initials: F
authors.lastname: Gümrük
authors.forename: M
authors.initials: M
authors.lastname: Cetin
authors.forename: A
authors.initials: A
authors.lastname: Yüce
authors.forename: M
authors.initials: M
authors.lastname: Ceyhan
authors.forename: G
authors.initials: G
authors.lastname: Seçmeer
authors.forename: S
authors.initials: S
authors.lastname: Yetgin
authors.forename: G
authors.initials: G
authors.lastname: Hiçsönmez
mesh_terms: D001853:Bone Marrow / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D015616:Histiocytosis, Non-Langerhans-Cell / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics / Q000473:pathology; D006801:Humans; D006836:Hydro-Lyases / Q000097:blood; D007223:Infant; D007231:Infant, Newborn; D008562:Membrane Glycoproteins / Q000235:genetics; D054353:Perforin; D052899:Pore Forming Cytotoxic Proteins; D013154:Spleen / Q000473:pathology; D014421:Turkey / Q000453:epidemiology
chemical_list: D008562:Membrane Glycoproteins; D052899:Pore Forming Cytotoxic Proteins; D054353:Perforin; D006836:Hydro-Lyases; C045581:lactate dehydratase