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

Area of Science:

• Medical Genetics
• Pediatric Nephrology
• Hepatology

Background:

• Renal-hepatic-pancreatic dysplasia type 2 (RHPD2) is a rare genetic disorder.
• Previously, RHPD2 was predominantly observed in perinatal losses, with limited data on clinical course and phenotypic variability.
• Existing literature often groups RHPD2 patients within broader cohorts of congenital anomalies of the kidney and urinary tract (CAKUT) or liver failure.

Approach:

• A comprehensive literature review was conducted to aggregate phenotypic and prognostic data from existing RHPD2 cases.
• An additional patient with RHPD2 was described.
• Clinical updates were provided for the oldest known living patient, and cumulative phenotypes were reported.

Key Points:

• Out of 17 reviewed cases, 13 were perinatal or infant deaths.
• Four patients survived past one year, with two succumbing to renal or combined liver/kidney failure, and two currently living well at 1 and 13 years.
• Two patients underwent transplantation, with one achieving long-term survival, highlighting the potential role of intervention.

Conclusions:

• RHPD2 demonstrates variable expressivity, extending beyond a perinatal lethal condition into a pediatric disorder.
• Transplantation is a viable consideration for managing RHPD2, with potential for long-term survival.
• Further research is warranted to fully elucidate the long-term prognosis and management strategies for RHPD2.