Molecular Genetics & Genomic Medicine (Apr 2023)

Renal‐hepatic‐pancreatic dysplasia type 2: Perinatal lethal condition or a multisystemic disorder with variable expressivity

  • Kathryn Gunther,
  • Essam M. Imseis,
  • Joyce P. Samuel,
  • Elizabeth A. Hillman,
  • Tiina H. Ojala,
  • Timo Jahnukainen,
  • Paul R. Hillman

DOI
https://doi.org/10.1002/mgg3.2135
Journal volume & issue
Vol. 11, no. 4
pp. n/a – n/a

Abstract

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Abstract Background Renal‐hepatic‐pancreatic dysplasia type 2 (RHPD2) is a rare condition that has been described in the literature disproportionately in perinatal losses. The main features of liver and kidney involvement are well described, with cardiac malformations and cardiomyopathy adding additional variation to the phenotype. Many patients reported are within larger cohorts of congenital anomalies of kidney and urinary tract (CAKUT) or liver failure, and with minimal phenotypic and clinical course data. Methods An independent series of phenotypes and prognosis was aggregated from the literature. In this literature review, we describe an additional patient with RHPD2, provide a clinical update on the oldest known living patient, and report the cumulative phenotypes from the existing published patients. Results With now examining the 17 known patients in the literature, 13 died within the perinatal period‐pregnancy to one year of life. Of the four cases living past the first year of life, one case died at 5 years secondary to renal failure, the other at 30 months secondary to liver and kidney failure. Two are currently alive and well at one year and 13 years. Two cases have had transplantation with one resulting in long‐term survival. Conclusions These patients serve to expand the existing phenotype of RHPD2 as a perinatal lethal condition into a pediatric disorder with variable expressivity. Additionally, we introduce the consideration of transplantation and outcomes within this cohort and future patients.

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