Living with Renal-hepatic-pancreatic dysplasia
A rare genetic condition with abnormal development of the kidneys, liver, and pancreas, present from before or at birth.
Understanding Renal-hepatic-pancreatic dysplasia
It involves scarring and cysts in the pancreas, abnormal kidney development with cysts, and abnormal liver development. Other differences include changes in how organs are positioned, skeletal differences, and anencephaly. Those who are past the newborn period may have reduced kidney function, long-lasting jaundice, and insulin-dependent diabetes.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Kidney cysts and reduced kidney function
- Enlarged liver
- Liver disease in newborns (cholestasis)
- Pancreas differences and diabetes
- Low amniotic fluid before birth
- Breathing difficulty in newborns
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include digestive system specialists, genetic specialists and kidney specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Digestive system specialists (gastroenterologists); Genetic specialists (geneticists); Kidney specialists (nephrologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with National Kidney Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says gene changes cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent. It doesn't name a gene yet.
Also known as: ivemark ii syndrome; ivemark's syndrome; renal hepatic pancreatic dysplasia; renohepaticopancreatic dysplasia; rhpd
Patient organizations
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Renal-hepatic-pancreatic dysplasia.
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