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A novel MAGED2 variant in a Chinese preterm newborn with transient antenatal Bartter's syndrome with 4 years follow-up.

ABSTRACT: Transient antenatal Bartter's syndrome caused by MAGED2 mutation is a rare X-linked recessive renal tubular disorder. Cases reported are mostly infants, and the long-term prognosis of the disease is still under investigation. We encountered a preterm male infant with polyhydramnios, polyuria, salt loss, hypercalciuria, nephrocalcinosis and alkalosis. Antenatal Bartter's syndrome was suspected, but these clinical symptoms surprisingly disappeared after about 2 months. This led to the clinical diagnosis of transient antenatal Bartter's syndrome. Gene analysis in this patient disclosed a novel variant (c.1598C > T, p.Ala533Val) in exon 12 of MAGED2 gene, and his mother was a heterozygous carrier. This patient was followed up in clinic for 4 years without recurrence of imbalance of potassium, sodium and chloride. His height and weight were in normal range, and all laboratory examinations and nephrotic ultrasound were also normal. We reported the first Chinese case of transient antenatal Bartter's syndrome caused by MAGED2 mutation. The 4-year follow-up of our case further demonstrates the benign prognosis of the disease and indicates that early recognition of this phenotype could avoid unnecessary treatments.

SUBMITTER: Ma M

PROVIDER: S-EPMC8665482 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Project description:BackgroundAntenatal corticosteroids for women at risk of preterm birth reduce neonatal morbidity and mortality, but there is limited evidence regarding their effects on long-term health. This study assessed cardiovascular outcomes at 50 years after antenatal exposure to corticosteroids.Methods and findingsWe assessed the adult offspring of women who participated in the first randomised, double-blind, placebo-controlled trial of antenatal betamethasone for the prevention of neonatal respiratory distress syndrome (RDS) (1969 to 1974). The first 717 mothers received 2 intramuscular injections of 12 mg betamethasone or placebo 24 h apart and the subsequent 398 received 2 injections of 24 mg betamethasone or equivalent volume of placebo. Follow-up included a health questionnaire and consent to access administrative data sources. The co-primary outcomes were the prevalence of cardiovascular risk factors (any of hypertension, hyperlipidaemia, diabetes mellitus, gestational diabetes mellitus, or prediabetes) and age at first major adverse cardiovascular event (MACE) (cardiovascular death, myocardial infarction, coronary revascularisation, stroke, admission for peripheral vascular disease, and admission for heart failure). Analyses were adjusted for gestational age at entry, sex, and clustering. Of 1,218 infants born to 1,115 mothers, we followed up 424 (46% of survivors; 212 [50%] female) at mean (standard deviation) age 49.3 (1.0) years. There were no differences between those exposed to betamethasone or placebo for cardiovascular risk factors (159/229 [69.4%] versus 131/195 [67.2%]; adjusted relative risk 1.02, 95% confidence interval [CI] [0.89, 1.18;]; p = 0.735) or age at first MACE (adjusted hazard ratio 0.58, 95% CI [0.23, 1.49]; p = 0.261). There were also no differences in the components of these composite outcomes or in any of the other secondary outcomes. Key limitations were follow-up rate and lack of in-person assessments.ConclusionsThere is no evidence that antenatal corticosteroids increase the prevalence of cardiovascular risk factors or incidence of cardiovascular events up to 50 years of age. Established benefits of antenatal corticosteroids are not outweighed by an increase in adult cardiovascular disease.

Project description:BACKGROUND:The neonatal period is only 1/60th of the first 5 years of life but it accounts for 63% of all infant deaths and 44% of all under-five deaths in Ethiopia. Most causes of neonatal death are preventable with clean cord care, temperature control by delaying first bath and initiation of early breastfeeding which has additional benefit of controlling hypothermia. Poor positive pressure ventilation (PPV) with ambubag is also another essential neborn care practice to reduce neonatal death even though it was not the focus of this study with the assumption that it cannot be measured only by exit interview (needs direct observation about the procedure). This study was aimed to assess the link between quality of ANC service and implementation of essential newborn care practices among pregnant women attending ANC at public health facilities of BDR City Administration. METHODS:A facility based prospective follow up study was conducted and 970 pregnant women with gestational age???16 weeks who came for their first ANC visit were enrolled. Women were followed from their first ANC visit until 6 weeks after delivery. Longitudinal data was collected during consultation with ANC providers using structured observation checklist and exit interview was also carried out at 6 weeks after birth when they came to immunize their child to assess the essential newborn care practices that their babies received. ANC service was considered as acceptable quality if women received ?75th percentile of the essential ANC services. Generalized Estimating Equation (GEE) was carried out to control cluster effect among women who received ANC in the same facility. RESULTS:The composite essential newborn care practice indices were 13.7%, with 95% CI (11.3%, 16.2%) and 86.3%, with 95% CI (83.8%, 88.7%) for good and poor essential new born care practices respectively. Of those who received acceptable ANC quality and un acceptable ANC quality 24.7% and 9.6% had good essential newborn care practice respectively (X2?=?31.668, p?<?0.000). CONCLUSIONS:Most neonatal interventions are not reaching newborns, indicating a "policy-to practice gap". It is crucial that maternal knowledge about essential newborn care need to start before the baby's birth with an effective educational plan. Quality ANC service is a facilitator for essential newborn care practice. To improve newborn survival, newborn care should be integrated into the current maternal and child health interventions, and should be promoted both at community and health facility level as part of a universal coverage strategy.

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A novel MAGED2 variant in a Chinese preterm newborn with transient antenatal Bartter's syndrome with 4 years follow-up.

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