Living with Renal tubular dysgenesis
A severe kidney condition in which parts of the kidneys don't develop before birth, affecting urine and amniotic fluid.
Understanding Renal tubular dysgenesis
The proximal tubules, which help reabsorb nutrients and water, are absent or underdeveloped. Without them, the kidneys can't make urine, so the fluid around the baby (amniotic fluid) is low. Low fluid causes a set of differences called the Potter sequence, including a flat nose, low-set ears, clubfeet, and underdeveloped lungs. It also causes severe low blood pressure and, in some people, large gaps between skull bones. GARD lists onset during pregnancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Kidneys that can't make urine (anuria)
- Low amniotic fluid before birth (oligohydramnios)
- Underdeveloped lungs
- Severe low blood pressure
- Multiple kidney cysts
- Wide-set eyes and flat nose
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 kidney specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- 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 lists autosomal recessive inheritance, meaning a child inherits a changed copy of the gene from each parent. It doesn't name a gene here.
Also known as: allanson pantzar mcleod syndrome; primitive renal tubule syndrome; renotubular dysgenesis
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 tubular dysgenesis.
Explore research for Renal tubular dysgenesis
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