Scholarlink

<p>A preterm male neonate born at 28 + 2&#xa0;weeks gestation, with a birth weight of 1520&#xa0;g (large for gestational age) and antenatal polyhydramnios, presented with prematurity, early-onset sepsis, and septic shock. Between days 4 and 9 of life, the neonate developed marked polyuria, hyponatremia, and compensated metabolic acidosis with normal to transiently elevated serum potassium levels, initially obscuring the diagnosis of a tubular disorder. Subsequently, the biochemical profile evolved to hypokalemia, metabolic alkalosis, and hypercalciuria, consistent with Bartter syndrome. The clinical course improved with fluid resuscitation, targeted electrolyte correction, and supportive care including respiratory, inotropic support and antibiotic therapy. Whole exome sequencing identified a novel frameshift variant, chrX:54837417delT (c.701delT; p.Leu234TrpfsTer12), in exon 4 of the <i>MAGED2</i> gene. The neonate was discharged in stable condition on day 47 of life (weight 1775&#xa0;g). This report highlights the diagnostic challenges of neonatal polyuria and salt-wasting syndromes in the setting of prematurity and sepsis and underscores the value of genetic confirmation for prognosis and counseling.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

Transient antenatal Bartter syndrome type 5 presenting as shock and metabolic acidosis in a preterm neonate

  • 期刊论文

  • 发表日期：

    2026年2月19日

查看全文
  • Aastha Dahiya,
  • Srishti Goel,
  • Abhijeet Saha,
  • Vikram Datta,
  • Pratima Anand

摘要

A preterm male neonate born at 28 + 2 weeks gestation, with a birth weight of 1520 g (large for gestational age) and antenatal polyhydramnios, presented with prematurity, early-onset sepsis, and septic shock. Between days 4 and 9 of life, the neonate developed marked polyuria, hyponatremia, and compensated metabolic acidosis with normal to transiently elevated serum potassium levels, initially obscuring the diagnosis of a tubular disorder. Subsequently, the biochemical profile evolved to hypokalemia, metabolic alkalosis, and hypercalciuria, consistent with Bartter syndrome. The clinical course improved with fluid resuscitation, targeted electrolyte correction, and supportive care including respiratory, inotropic support and antibiotic therapy. Whole exome sequencing identified a novel frameshift variant, chrX:54837417delT (c.701delT; p.Leu234TrpfsTer12), in exon 4 of the MAGED2 gene. The neonate was discharged in stable condition on day 47 of life (weight 1775 g). This report highlights the diagnostic challenges of neonatal polyuria and salt-wasting syndromes in the setting of prematurity and sepsis and underscores the value of genetic confirmation for prognosis and counseling.