Summary about Disease
Kidney agenesis is a birth defect where one (unilateral) or both (bilateral) kidneys fail to develop during gestation. Bilateral kidney agenesis is incompatible with life as the kidneys are essential for producing amniotic fluid, and without it, the lungs do not develop properly. Unilateral kidney agenesis is often asymptomatic, as the remaining kidney compensates. However, it can increase the risk of future kidney problems.
Symptoms
Bilateral Kidney Agenesis:
Potter sequence: Characteristic facial features (flattened nose, recessed chin), abnormal limb positioning, pulmonary hypoplasia (underdeveloped lungs). Oligohydramnios (too little amniotic fluid) during pregnancy.
Unilateral Kidney Agenesis:
Often asymptomatic. May have associated urogenital abnormalities. Can increase risk of hypertension, proteinuria, and chronic kidney disease later in life.
Causes
The exact cause of kidney agenesis is often unknown. It is thought to be multifactorial, involving a combination of genetic and environmental factors. Some potential causes and associations include:
Genetic mutations: Certain genes involved in kidney development can be mutated.
Environmental factors: Exposure to certain drugs (e.g., ACE inhibitors, NSAIDs) during pregnancy, maternal diabetes, alcohol consumption, and vitamin A deficiency have been implicated.
Chromosomal abnormalities: Can sometimes be associated with chromosomal disorders.
Medicine Used
There is no medicine to treat kidney agenesis directly.
Bilateral Kidney Agenesis: Is generally fatal, so medical interventions are limited.
Unilateral Kidney Agenesis: Focus is on monitoring kidney function, managing hypertension, and preventing kidney damage. ACE inhibitors or ARBs may be prescribed to protect the remaining kidney, if hypertension or proteinuria are present.
Is Communicable
No. Kidney agenesis is not a communicable disease. It is a congenital birth defect.
Precautions
There are no precautions that can be taken to prevent kidney agenesis, as the exact cause is often unknown. However, women who are planning to become pregnant or are pregnant should:
Avoid certain medications known to affect kidney development.
Manage existing medical conditions such as diabetes.
Avoid alcohol consumption.
Ensure adequate nutrition and vitamin intake.
Consider genetic counseling if there is a family history of kidney abnormalities.
How long does an outbreak last?
Kidney agenesis is not an infectious disease, therefore there are no outbreaks. It is a congenital condition.
How is it diagnosed?
Prenatal Diagnosis: Ultrasound during pregnancy can detect the absence of kidneys and oligohydramnios (especially in bilateral cases).
Postnatal Diagnosis:
Physical examination (looking for Potter sequence features).
Ultrasound of the abdomen to confirm absence of one or both kidneys.
Voiding cystourethrogram (VCUG) to assess for other urogenital abnormalities.
Renal scan (e.g., MAG3 scan) to evaluate kidney function of the remaining kidney (in unilateral cases).
Genetic testing may be considered in some cases.
Timeline of Symptoms
Bilateral Kidney Agenesis: Symptoms are evident from birth (Potter sequence). Incompatible with prolonged life.
Unilateral Kidney Agenesis: Often asymptomatic at birth. Symptoms, if any, develop later in life (e.g., hypertension, proteinuria, signs of chronic kidney disease).
Important Considerations
Bilateral kidney agenesis is a devastating diagnosis with no cure and usually results in perinatal death. Genetic counseling is important for families.
Unilateral kidney agenesis requires long-term monitoring of kidney function. Individuals with unilateral kidney agenesis should maintain a healthy lifestyle, including a low-sodium diet, healthy weight, and avoidance of nephrotoxic substances. Participation in contact sports may need to be modified to protect the remaining kidney. Patients should be educated about the signs and symptoms of kidney disease.