[Anemia in children].
Anemia is one of the most common symptoms in children caused by numerous underlying diseases. In majority of patients, these diseases can be correctly diagnosed through physical examination, history taking, and routine laboratory tests. Bone marrow failure syndromes associated with several genetic diseases are rare causes of anemia in childhood. We reviewed the recent progress of molecular mechanisms in bone marrow failure syndromes, such as Shwachman-Diamond syndrome (SDS), Diamond-Blackfan anemia (DBA), and dyskeratosis congenita (DC), which are all predicted to involve defective ribosome synthesis. Delineation of the precise role of each gene product in ribosomal biogenesis and hematopoiesis may have both therapeutic and prognostic significance.
Muramatsu
Hideki
H
Department of Pediatrics, Nagoya University Graduate School of Medicine.
Kojima
Seiji
S
D029503:Anemia, Diamond-Blackfan / Q000235:genetics; D018797:Cell Cycle Proteins / Q000235:genetics; D019871:Dyskeratosis Congenita / Q000235:genetics; D010188:Exocrine Pancreatic Insufficiency / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D009687:Nuclear Proteins / Q000235:genetics; D010009:Osteochondrodysplasias / Q000235:genetics; D011379:Prognosis; D011506:Proteins / Q000235:genetics; D012269:Ribosomal Proteins / Q000235:genetics; D012270:Ribosomes / Q000235:genetics / Q000378:metabolism; D013577:Syndrome
D018797:Cell Cycle Proteins; C112148:DKC1 protein, human; D009687:Nuclear Proteins; D011506:Proteins; D012269:Ribosomal Proteins; C470521:SBDS protein, human; C040343:ribosomal protein S19