ABSTRACT
Diamond-Blackfan anemia (DBA) is an inherited anemia with multiple congenital malformations, and mutations in ribosomal protein genes have been identified as the underlying cause. We describe a female patient with mild DBA due to 1p22 deletion, encompassing the gene encoding 60S ribosomal protein L5 (RPL5). Considering previously reported cases together with our patient, we suggest that RPL5 haploinsufficiency might cause a less severe form of DBA than loss-of-function mutations.
ABSTRACT
BACKGROUND: Preterm infants are at risk for metabolic bone disease and suboptimal growth. This study examined the hypothesis that, apart from prematurity, intrauterine growth status (expressed as gestational age-specific birthweight standard deviation score) influences bone mineralization and body composition in early infancy. METHODS: In this retrospective study, the groups consisted of preterm small-for-gestational-age (SGA) infants (n = 18; SGA group) and preterm appropriate-for-gestational-age (AGA) infants (n = 24; AGA group). Postnatal bone mineralization was measured at term-adjusted age (postmenstrual age, 37-42 weeks). Bone mineral content (BMC) and body composition were determined on dual-energy X-ray absorptiometry of the whole body. RESULTS: BMC and lean mass were significantly lower in the SGA group than in the AGA group at term-adjusted age (37-42 weeks postmenstrual age). Stepwise regression analysis identified weight at examination as the most significant factor, accounting for 51% of the variance in BMC. CONCLUSION: Bodyweight at term-adjusted age, rather than intrauterine growth, may affect postnatal bone mineralization in preterm low-birthweight infants. Therefore, promoting an increase in body size might increase postnatal bone mineralization in preterm SGA infants.