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<p>Autosomal dominant hypocalcaemia type 1 is rare and clinically challenging. Altered calcium handling may lead to progressive nephrocalcinosis and chronic kidney disease. We present the first known report of a child with ADH1 caused by the genetic variant c.2528C &gt; A; p.Ala843Glu, who successfully underwent kidney transplantation without simultaneous parathyroid gland transplant aged 11yrs. We outline our reasoning for this and our management strategy for maintaining calcium homeostasis post-transplant over a 4-year period.</p>

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Peri-kidney transplant management in autosomal dominant hypocalcaemia type 1

  • 期刊论文

  • 发表日期：

    2026年2月13日

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  • Alice Glaysher,
  • Matthew J. Harmer,
  • Ji Soo Kim,
  • Mushfequr R. Haq,
  • Rodney D. Gilbert,
  • Justin H. Davies

摘要

Autosomal dominant hypocalcaemia type 1 is rare and clinically challenging. Altered calcium handling may lead to progressive nephrocalcinosis and chronic kidney disease. We present the first known report of a child with ADH1 caused by the genetic variant c.2528C > A; p.Ala843Glu, who successfully underwent kidney transplantation without simultaneous parathyroid gland transplant aged 11yrs. We outline our reasoning for this and our management strategy for maintaining calcium homeostasis post-transplant over a 4-year period.