Pseudo-Bartter syndrome in an infant with renal hypo/dysplasia: <i>PAX2</i> mutation identified by next-generation sequencing led to the diagnosis, renal coloboma syndrome

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  • Hatae Ken
    Department of Pediatrics, Japanese Red Cross Fukuoka Hospital
  • Keida Yumi
    Department of Pediatrics, Japanese Red Cross Fukuoka Hospital
  • Hinokiyama Maiko
    Department of Pediatrics, Japanese Red Cross Fukuoka Hospital
  • Kuroki Rie
    Department of Pediatrics, Japanese Red Cross Fukuoka Hospital
  • Kurokawa Mari
    Department of Pediatrics, Japanese Red Cross Fukuoka Hospital
  • Morisada Naoya
    Department of Pediatrics, Kobe University Graduate School of Medicine Department of Clinical Genetics, Hyogo Prefectural Kobe Childrenʼs Hospital
  • Nozu Kandai
    Department of Pediatrics, Kobe University Graduate School of Medicine
  • Iijima Kazumoto
    Department of Pediatrics, Kobe University Graduate School of Medicine

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  • 偽性Bartter 症候群を呈した腎低異形成の乳児：次世代シークエンサーで<i>PAX2</i> 変異が同定され，腎コロボーマ症候群と診断した1 女児例

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<p>PAX2 mutation causes CAKUT and renal coloboma syndrome (RCS). We are presenting an infant with renal hypo/dysplasia which showed pseudo-Bartter syndrome during the course of treatment.</p><p>A female born in the 41st gestational week, weighing 3,116 g. On the 4th day of life she was pointed out 11% weight loss, and instructed additional milk with breastfeeding at discharge. Since she did not drink milk from nursing bottle, mother brought up her by breastfeeding only. On the 2 month of age, she pointed out failure to thrive and referred to our hospital. On the 78th day after birth, her weight was 3,930 g. Blood examination showed urea nitrogen 23.1 mg/dl, creatinine 0.57 mg/dl, and ultrasonography revealed bilateral small and echogenic kidneys. We diagnosed renal hypo/dysplasia. On ocular examination, no abnormalities were pointed out in the fundus. On the 6 months of age, she showed metabolic alkalosis, hypokalemia and hypercalciuria, so Bartter syndrome was suspected. We analyzed the genes, those associated with Bartter syndrome or CAKUT. Next-generation sequencing analysis with CAKUT revealed PAX2 gene mutation. One base insertion on exon2 of PAX2 gene(NM_003987.3:c.76dupG, p.Val26Glyfs*28) was detected. We re-examined ocular funds and found a mild optic papilla abnormality. We diagnosed this patient as RCS.</p>

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