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In 1959, Ivemark et al. described two siblings with “familial dysplasia of kidneys, liver and pancreas” for the first time (Ivemark et al. 1959). Renal-Hepatic-Pancreatic dysplasia syndrome is a rare genetic disorder that arises during embryonic development, which characterized by a combination of three main features: renal dysplasia, hepatic agenesis, and pancreatic fibrosis. Together, this triad represent a “dysplastic sequence” (Vankalakunti et al. 2007). Additional abnormalities such as misplaced organs (situs anomalies), skeletal deformities, and anencephaly have also been reported. Newborns who survive past infancy typically develop kidney failure, persistent jaundice, and insulin-dependent diabetes (Cagan Appak et al. 2020; Zhu et al. 2022). The prevalence is unknown, only 17 cases of RHPD is reported in medical journals. Symptoms can appear in antenatal or neonatal stage (Gunther et al. 2023).

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Renal-Hepatic-Pancreatic Dysplasia: (RHPD): Types 1 and 2

  • 动态工具书词条

  • 发表日期：

    2025年

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  • Asmae Akbari,
  • Nima Rezaei

摘要

In 1959, Ivemark et al. described two siblings with “familial dysplasia of kidneys, liver and pancreas” for the first time (Ivemark et al. 1959). Renal-Hepatic-Pancreatic dysplasia syndrome is a rare genetic disorder that arises during embryonic development, which characterized by a combination of three main features: renal dysplasia, hepatic agenesis, and pancreatic fibrosis. Together, this triad represent a “dysplastic sequence” (Vankalakunti et al. 2007). Additional abnormalities such as misplaced organs (situs anomalies), skeletal deformities, and anencephaly have also been reported. Newborns who survive past infancy typically develop kidney failure, persistent jaundice, and insulin-dependent diabetes (Cagan Appak et al. 2020; Zhu et al. 2022). The prevalence is unknown, only 17 cases of RHPD is reported in medical journals. Symptoms can appear in antenatal or neonatal stage (Gunther et al. 2023).