BACKGROUND: Sideroblastic anemia represents a heterogeneous group of inherited or acquired diseases with disrupted erythroblast iron utilization, ineffective erythropoiesis, and variable systemic iron overload. In a cohort of 421 patients with multisystem mitochondrial diseases, refractory anemia was found in 8 children. RESULTS: Five children had sideroblastic anemia with increased numbers of ring sideroblasts >15%. Two of the children had a fatal course of MLASA1 syndrome (mitochondrial myopathy, lactic acidosis, and sideroblastic anemia [SA]) due to a homozygous, 6-kb deletion in the PUS1 gene, part of the six-member family of pseudouridine synthases (pseudouridylases). Large homozygous deletions represent a novel cause of presumed PUS1-loss-of-function phenotype. The other three children with SA had Pearson syndrome (PS) due to mtDNA deletions of 4 to 8 kb; two of these children showed early onset of PS and died due to repeated sepsis; the other child had later onset of PS and survived as the hematological parameters normalized and the disease transitioned to Kearns-Sayre syndrome. In addition, anemia without ring sideroblasts was found in three other patients with mitochondrial disorders, including two children with later onset of PS and one child with failure to thrive, microcephaly, developmental delay, hypertrophic cardiomyopathy, and renal tubular acidosis due to the heterozygous mutations c.610A>G (p.Asn204Asp) and c.674C>T (p.Pro225Leu) in the COX10 gene encoding the cytochrome c oxidase assembly factor. CONCLUSIONS: Sideroblastic anemia was found in fewer than 1.2% of patients with multisystem mitochondrial disease, and it was usually associated with an unfavorable prognosis.
- MeSH
- acyl-CoA-dehydrogenasa s dlouhým řetězcem nedostatek genetika metabolismus MeSH
- dítě MeSH
- lidé MeSH
- mitochondriální nemoci * genetika metabolismus patologie MeSH
- nemoci svalů * genetika metabolismus patologie MeSH
- předškolní dítě MeSH
- přetížení železem * genetika metabolismus patologie MeSH
- sideroblastická anemie * genetika metabolismus patologie MeSH
- syndrom MELAS * genetika metabolismus MeSH
- vrozené poruchy metabolismu tuků * genetika metabolismus patologie MeSH
- vrozené syndromy selhání kostní dřeně MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- mužské pohlaví MeSH
- předškolní dítě MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Publikační typ
- abstrakt z konference MeSH
Idiopatická trombocytopenická purpura predstavuje až 95 % všetkých trombocytopénií v detskom veku. Patrí medzi imunitné trombocytopénie zo zvýšenej deštrukcie. Manažment liečby ITP s prihliadnutím na odporúčania prof. Gadnera, americkej a britskej smernice, je závislý hlavne od klinického stavu, rozsahu krvácania a počtu trombocytov. Pri akútnej ITP sa medikamentózna liečba odporúča pri „wet purpure“ a počte Trc menej ako 20 x 109/l vždy u pacientov s počtom Trc pod 10 x 109/l, pri život ohrozujúcom krvácaní aj pri počte Trc do 50 x 109/l. Liekmi prvej voľby ostávajú kortikoidy (HD-prednizón alebo HD-metylprednizolón) na druhom mieste IVIG, ďalšou možnosťou je použitie anti-D globulínu, pri chronických ITP možnosť použitia cyklosporínu A, cyklofosfamidu, vinkristínu, event. vinblastínu. Pri zlyhaní liečby akútnej aj chronickej ITP monoklonová protilátka anti-CD20-rituximab. Ten bol na oddelení Detskej onkológie a hematológie (ODOH) Košice doteraz použitý trikrát (pri dvoch akútnych ITP s epistaxou a pri jednej chronickej ITP s počtom Trc pod 5 x 109/l a slizničnom krvácaní). Úspešne.
Idiopatic trombocytopenic purpura (ITP) comprises up to 95 % of all trombocytopenias in childhood. It belongs to immune trombocytopenias caused by greater destruction of trombocytes. Management of therapy, according to recommendation of prof. Gadner, American and British guidelines, depends on clinical condition, degree of hemorrhage and trombocytes count. The therapy of acute ITP is recommended in „wet purpura“ and trombocytes count less than 20 x 109/l, always in patients with trombocytes count below 10 x 109/l, in life threatening hemorrhage also with trombocytes count up to 50 x 109/l. The choices of treatment are steroids (High-dose Prednison or high-dose methylprednisolon), second line therapy consists of intravenous immunoglobulin (IVIG), anti-D globulin is the other choice of therapy. In chronic ITP Cyclosporin A, Cyclophosphamide, Vincristin, Vinblastin treatment is recommended. In case of failure of therapy in acute or chronic ITP it is anti-CD 20 – monoclonal antibody, rituximab. At the department of Pediatric Oncology (Hematology Kosice) we treated with Rituximab three patients, two with acute ITP and episaxis and one with chronic ITP, trombocytes count below 50 x 109/l and mucosal hemorrhage. Successfully.
