Influence of Genetic Polymorphisms on Bone Disease of Preterm Infants

Funke, Simone; Morava, Éva; Czakó, Márta; Vida, Gabriella; Ertl, Tibor; Kosztolányi, György

doi:10.1203/01.pdr.0000242340.45676.5d

Cited by 13 publications

(5 citation statements)

References 31 publications

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“…However, clinical trials have shown that vitamin D supplementation of pregnant women reduces the risk for preeclampsia and gestational diabetes which represent risk factors for MBD (11, 12). Male gender and polymorphisms of vitamin D receptor, estrogen receptor, and collagen alpha 1 genes have also been indicated as risk factors for MBD in preterm infants (13).…”

Section: Introductionmentioning

confidence: 99%

Metabolic Bone Disease of Prematurity: Diagnosis and Management

Faienza

D’Amato

Natale³

et al. 2019

Front. Pediatr.

114

138

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Metabolic Bone Disease (MBD) of prematurity is a multifactorial disorder commonly observed in very low birth weight (VLBW, <1,500 g) newborns, with a greater incidence in those extremely low birth weight (ELBW, <1,000 g). MBD is characterized by biochemical and radiological findings related to bone demineralization. Several antenatal and postnatal risk factors have been associated to MBD of prematurity, although the main pathogenetic mechanism is represented by the reduced placental transfer of calcium and phosphate related to preterm birth. The diagnosis of MBD of prematurity requires the assessment of several biochemical markers, radiological, and ultrasonographic findings. However, the best approach is the prevention of the symptomatic disease, based on the screening of subjects exposed to the risks of developing MBD. Regarding the subjects who need to be screened, there is a substantial agreement on the potential risk factors for MBD. On the contrary, different recommendations exist on the diagnosis, management and treatment of this disorder of bone metabolism. This review was aimed at: (1) identifying the subjects at risk for MBD of prematurity; (2) indicating the biochemical findings to take in consideration for the prevention of MBD of prematurity; (3) suggesting practical recommendations on nutritional intake and supplementation in these subjects. We searched for papers which report the current recommendations for biochemical assessment of MBD of prematurity and for its prevention and treatment. The majority of the authors suggest that MBD of prematurity is a disease which tends to normalize overtime, thus it is not mandatory to mimic the rate of mineral fetal accretion through parenteral or enteral supplementation. The optimization of total parenteral nutrition (TPN) and the early achievement of a full enteral feeding are important goals for the prevention and management of MBD of prematurity.

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Section: Introductionmentioning

confidence: 99%

Metabolic Bone Disease of Prematurity: Diagnosis and Management

Faienza

D’Amato

Natale³

et al. 2019

Front. Pediatr.

114

138

View full text Add to dashboard Cite

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“…Male sex, breastfeeding, and sepsis increase the risk of severe MBD. Compared with female infants, male infants have a low renal tubular reabsorption rate and increased renal phosphorus excretion, which may be related to delayed kidney maturity, leading to the occurrence of hypophosphatemia, which is a risk factor for MBD in preterm infants (19,20). Compared with preterm infant formula or intensive breastfeeding, breastfed preterm infants have lower phosphate levels (21); Adamkin et al (22) have shown that the prevalence of rickets in breastfed preterm infants is 40%, and formula milk powder has reduced the prevalence to 16%; this may be due to that intensive breastfeeding or formula milk feeding provides adequate calcium and phosphorus for premature infants and helps prevent MBD.…”

Section: Discussionmentioning

confidence: 99%

“…Early MBD is associated with male sex, increased initial ALP levels, and breastfeeding. Human milk alone may have inadequate protein and mineral content to promote optimal growth in the preterm infant because phosphate levels are lower in premature babies and breastfed infants (19)(20)(21). A lower phosphate level accompanied by initial high ALP levels and the effect of accumulation over time would affect bone mineralization, leading to the early occurrence of MBD.…”

Section: Discussionmentioning

confidence: 99%

Screening of Serum Alkaline Phosphatase and Phosphate Helps Early Detection of Metabolic Bone Disease in Extremely Low Birth Weight Infants

et al. 2021

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Background: Extremely low birth weight (ELBW, <1,000 g) infants have a high risk of metabolic bone disease (MBD). Because of the late appearance of radiological signs, diagnosis of MBD in ELBW infants might be delayed, and its prevalence underestimated in this group of patients. This study adopted serial screening of serum alkaline phosphatase (ALP) and phosphate (P) of ELBW infants to determine whether such screening is helpful for the early detection of MBD.Materials and Methods: We performed a retrospective study of preterm infants with a gestational age ≤ 31 weeks and birth weight <1,000 g. MBD was absent (ALP ≤500 IU/L), mild (ALP >500 IU/L, P ≥4.5 mg/dL), and severe (ALP >500 IU/L, P <4.5 mg/dL); MBD was divided into early MBD (≤4 weeks after birth) and late MBD (>4 weeks after birth) according to the time of onset.Results: A total of 142 ELBW infants were included, with a median gestational age of 28.1 (26.5–29.7) weeks and a median birth weight of 875 (818–950) g. Seventy-three cases of MBD were diagnosed, and the total prevalence was 51.4% (mild MBD, 10.6%; and severe MBD, 40.8%). Male sex, breastfeeding, and sepsis would increase the risk of severe MBD. Most MBD in ELBW infants occurred at 3–4 weeks after birth. Sixty-two percent (45/73) of infants were diagnosed as having early MBD, which are diagnosed earlier than late MBD [24 (21–26) vs. 39 (36–41), t = −7.161; P < 0.001]. Male sex [odds ratio (OR), 2.86; 95% confidence interval (CI), 1.07–7.64; P = 0.036], initial high ALP levels (OR, 1.02; 95% CI, 1.01–1.03; P < 0.001), and breastfeeding (OR, 5.97; 95% CI, 1.01–25.12; P = 0.049) are independent risk factors for the development of early MBD.Conclusion: The risk of MBD among ELBW infants is very high. Most cases occurred early and were severe. Male sex, initial high ALP levels, and breastfeeding are closely related to the increased risk of early MBD. Serial screening of serum ALP and P helps early detection of MBD; it is recommended to start biochemical screening for ELBW infants 2 weeks after birth and monitor their biochemical markers weekly.

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“…Other risk factors for MBD in preterm infants are male gender and polymorphisms of certain genes (vitamin D receptor, oestrogen receptor, and collagen alpha 1 genes) [ 33 ].…”

Section: The Role Of Epigenetics In the Regulation Of Placenta And Fo...mentioning

confidence: 99%

Prenatal and Neonatal Bone Health: Updated Review on Early Identification of Newborns at High Risk for Osteopenia

Perrone,

Caporilli,

Grassi

et al. 2023

Nutrients

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Bone health starts with maternal health and nutrition, which influences bone mass and density already in utero. The mechanisms underlying the effect of the intrauterine environment on bone health are partly unknown but certainly include the ‘foetal programming’ of oxidative stress and endocrine systems, which influence later skeletal growth and development. With this narrative review, we describe the current evidence for identifying patients with risk factors for developing osteopenia, today’s management of these populations, and screening and prevention programs based on gestational age, weight, and morbidity. Challenges for bone health prevention include the need for new technologies that are specific and applicable to pregnant women, the foetus, and, later, the newborn. Radiofrequency ultrasound spectrometry (REMS) has proven to be a useful tool in the assessment of bone mineral density (BMD) in pregnant women. Few studies have reported that transmission ultrasound can also be used to assess BMD in newborns. The advantages of this technology in the foetus and newborn are the absence of ionising radiation, ease of use, and, above all, the possibility of performing longitudinal studies from intrauterine to extrauterine life. The use of these technologies already in the intrauterine period could help prevent associated diseases, such as osteoporosis and osteopenia, which are characterised by a reduction in bone mass and degeneration of bone structure and lead to an increased risk of fractures in adulthood with considerable social repercussions for the related direct and indirect costs.

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Influence of Genetic Polymorphisms on Bone Disease of Preterm Infants

Cited by 13 publications

References 31 publications

Metabolic Bone Disease of Prematurity: Diagnosis and Management

Metabolic Bone Disease of Prematurity: Diagnosis and Management

Screening of Serum Alkaline Phosphatase and Phosphate Helps Early Detection of Metabolic Bone Disease in Extremely Low Birth Weight Infants

Prenatal and Neonatal Bone Health: Updated Review on Early Identification of Newborns at High Risk for Osteopenia

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