Renal-hepatic-pancreatic dysplasia

Renal-hepatic-pancreatic dysplasia is a congenital disorder inherited in an autosomal recessive pattern and marked by three linked problems: abnormal development of the kidneys, disrupted development of the liver, and hardening or scarring of the pancreas. It was characterized in 1959. Studies of fetuses that died show enlarged kidneys with scattered cysts and few recognizable nephron structures, a firm cystic liver with irregular bile ducts bound by scar tissue, and a disorganized pancreas with dilated ducts. Because the liver disturbance may progress on a different timeline from the kidney and pancreas changes, and other features vary from case to case, the syndrome does not present uniformly. An association with the NPHP3 gene has been described, and related nephronophthisis genes such as NEK8 affect the cilia and organ development pathways involved.