Impact of genotype on neutropenia in a large cohort of Serbian patients with glycogen storage disease type Ib.

BACKGROUND: Glycogen storage disease type Ib (GSD-Ib) is an inherited metabolic disorder caused by autosomal recessive mutations in SLC37A4 coding for the glucose-6-phosphate transporter. Neutropenia represents major feature of GSD-Ib along with metabolic disturbances. Previous research in GSD-Ib patients did not reveal significant genotype-phenotype correlation. Our objective was to explore the frequency and severity of neutropenia and it's complications in relation to genotype of GSD-Ib patients. METHODS: We estimated cumulative incidence of neutropenia and severe neutropenia, relation of genotype to absolute neutrophil count (ANC), and dynamics of ANC during serious bacterial infections (SBI) in a cohort of Serbian GSD Ib patients. Impact of genotype on GSD Ib-related inflammatory bowel disease (IBD) was also assessed. RESULTS: Absolute neutrophil count (ANC) < 1500/mm3 was present in all 33 patients, with severe neutropenia (ANC<500/mm3) occurring in 60.6% of patients. The median age at neutropenia onset was 24 months, while severe neutropenia developed at median of 4.5 years. The ANC was elevated during 90.5% episodes of SBI. Genotypes c.81T>A/c.785G>A and c.81T>A/c.1042_1043delCT are associated with earlier onset of neutropenia. Patients carrying c.785G>A mutation express a higher capacity for ANC increase during SBI. Inflammatory bowel disease was diagnosed in 8 patients (24.2% of total) with median age of onset at 7 years. Risk for IBD occurrence was not significantly affected by gender, genotype and severity of neutropenia. CONCLUSIONS: We may conclude that certain mutations in SLC37A4 influence the risk for severe neutropenia occurrence but also affect the capacity to increase ANC during SBI.

Autoimmune neutropenia of infancy with multiple brain abscesses during the course of human herpesvirus-6 infection.

Autoimmune neutropenia of infancy is characterized by recurrent infections such as pneumonia, otitis media, impetigo, purulent skin regions, gastritis, and upper respiratory infection. However, severe bacterial infection is uncommon. This report documents a 9-month-old boy presenting with autoimmune neutropenia in association with multiple brain abscesses during the course of human herpesvirus (HHV)-6 infection. HHV-6 has a tendency of neurovirulence, which can destroy the blood-brain barrier and facilitate the easy invasion of agents inside the brain. Although autoimmune neutropenia of infancy is benign and self limiting, it must be emphasized that severe bacterial infection will be induced by concurrent viral infection in this specific disorder.

Acyclovir-induced neutropenia in an infant with herpes simplex encephalitis: case report.

A newborn infant whose condition was diagnosed as herpes simplex encephalitis and who had subsequent recurrences of skin disease had repeated episodes of neutropenia while receiving therapy with intravenous (30 mg/[kg.d]) or oral (30 mg/]kg.d]) acyclovir. The neutropenia did not recur when the dosage of oral acyclovir was reduced to 10 mg/(kg.d). This case represents the first well-documented report of acyclovir-induced neutropenia.

Neutropenia por pentoxifilina, reporte de un caso / Pentoxifyline induced neutropenia, report a case

Se reporta un caso de neutropenia causada por Pentoxifilina. Se trata de una paciente femenina de 82 años de edad con diagnóstico de Vasculitis Necrotizante Sistémica quien se hospitalizó por síncope el 8-04-89. Ocho semanas antes de su admisión ella había comenzado tratamiento con Pentoxifilina 400 mg TID por arteriopatía periférica y úlceras en piernas. Entre sus exámenes complementarios de ingres****************************************************************00190100020000220100017000420100021000590100028000800100017001080120180001250130113003050140006004180300019004240310003004430320004004460380005004500380004004550400003004590410003004620410003004650640014004680650009004820900002004910910009

Buffy coat transfusions in neutropenic neonates with presumed sepsis: a prospective, randomized trial.

Neonatal sepsis, accompanied by neutropenia, is associated with a high mortality. To determine whether granulocyte transfusions improve the survival of critically ill neutropenic infants, we prospectively randomized 25 infants to transfusion and nontransfusion groups, matching for birth weight (less than or equal to 1,500 g or greater than 1,500 g). Infants with necrotizing enterocolitis were randomized separately. Neutropenia was established by two successive absolute neutrophil counts less than or equal to 1,500 cells prior to randomization. The transfusion (n = 12) and nontransfusion (n = 13) groups did not differ with respect to clinical or hematologic characteristics. In 23 of 25, bone marrow aspirations were performed to determine the percentage of neutrophil storage pool. Granulocyte transfusions of buffy coats from single units of whole blood (0.1 to 0.9 X 10(9) polymorphonuclear leukocytes per kilogram) were given daily until the absolute neutrophil count increased to more than 1,500/microL. Only five infants, mostly those with necrotizing enterocolitis, required more than one transfusion. A circulating immature to total neutrophil ratio (I:T) greater than or equal to 0.80 was not predictive of an infant with a neutrophil storage pool less than or equal to 7%, and neither an I:T less than 0.80 nor a neutrophil storage pool greater than 7% were predictive of survival. Granulocyte transfusions did not improve survival when either comparing the whole group, those 17 infants with cultures positive for bacteria or viruses, the 19 infants with a circulating I:T greater than or equal to 0.80, or the nine infants with a neutrophil storage pool less than or equal to 7%.(ABSTRACT TRUNCATED AT 250 WORDS)