Diamond-Blackfan anemia is a rare inherited bone marrow failure syndrome diagnosed in early infancy that is characterized by a (a) macrocytic anemia with no other significant cytopenia, (b) reticulocytopenia, and (c) normal bone marrow cellularity with a paucity of erythroid precursors. Physical anomalies are often present. Mutations in several ribosomal proteins have been associated with the disease. Here we present a detailed description of 39 patients from 34 families enrolled in the Czech National Diamond-Blackfan Anemia Registry. Erythrocyte adenosine deaminase activity and serum erythropoietin levels were measured and bone marrow analysis and clonogenic assays were carried out. Twenty-two different ribosomal proteins were sequenced. We identified mutations in five different ribosomal proteins in 28/39 patients (71.8%) from 23/34 families (67.6%). Several new mutations are described. The most interesting data relate to genotype-phenotype correlations. All patients with ribosomal protein L5 or ribosomal protein L11 mutations have a thumb defect usually with one or more other anomalies. Most of these patients were born small for gestational age and currently have short stature. We also described five patients with a ribosomal protein S26 mutation. All of the latter are transfusion-dependent and they exhibit skeletal abnormalities rather than thumb or craniofacial deformities. Patients with ribosomal protein S19 seem to bear mildest associated anomalies, usually in a craniofacial region.
- MeSH
- Diamondova-Blackfanova anemie diagnóza epidemiologie genetika MeSH
- dítě MeSH
- dospělí MeSH
- exony MeSH
- fenotyp MeSH
- genetické asociační studie MeSH
- incidence MeSH
- kojenec MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- mutace MeSH
- pořadí genů MeSH
- předškolní dítě MeSH
- registrace MeSH
- ribozomální proteiny genetika MeSH
- Check Tag
- dítě MeSH
- dospělí MeSH
- kojenec MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- předškolní dítě MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Geografické názvy
- Česká republika MeSH
Sinus histiocytosis with massive lymphadenopathy (SHML), also known as Rosai-Dorfman disease (RDD), is a rare clinicopathologic entity of unknown etiology. The majority of patients do not require treatment, demonstrating spontaneous resolution or stable disease. However, in some cases the disorder runs a progressive course and/or threatens vital structures and functions, which dictates some form of intervention. It is not clear what constitutes the best approach for those cases. We report on a girl with an extensive and progressive form of the disease who was cured with combination chemotherapy, showing no evidence of recurrence after a follow-up of 5.5 years
- MeSH
- antiflogistika aplikace a dávkování MeSH
- antimetabolity aplikace a dávkování MeSH
- kombinovaná farmakoterapie MeSH
- lidé MeSH
- lymfatické uzliny patologie MeSH
- merkaptopurin aplikace a dávkování MeSH
- methotrexát aplikace a dávkování MeSH
- mladiství MeSH
- prednison aplikace a dávkování MeSH
- sinusová histiocytóza farmakoterapie komplikace patologie MeSH
- vinblastin aplikace a dávkování MeSH
- výsledek terapie MeSH
- Check Tag
- lidé MeSH
- mladiství MeSH
- ženské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH