Table of Contents
- Introduction :
- Unilateral agenesis :
- Symptoms :
- Causes :
- Complications:
- Diagnosis
- Preventive Measures and Treatment :
- Bilateral Renal Agenesis :
- Symptoms :
- Causes :
- Diagnosis :
- Treatment :
- Conclusion :
- Reference
- Other articles :
Introduction :
RENAL AGENESIS : It is a congenital disorder of urinary system occur due to genetic abnormality in the fetal stage .
Absence of renal tissue , due to failure in formation of uretic bud or failure in fusion of uretic bud with metanephric blastema.
Types of Renal agenesis :
- Unilateral agenesis
- Bilateral agenesis
Unilateral agenesis :
It is the condition ,where formation of only one kidney takes place [absence of one kidney] .
It is a autosomal dominant condition [ may get from any one of the parent ] .
This condition may associate with other congenital anomalies of kidney and urinary tract [CAKUT] and external anomalies .
In general , a person can maintain his entire life with one kidney , but one should take some preventive measures to maintain a normal and healthy function of kidney . As in this cases single kidney alone should have to take the work load of both kidneys .
Symptoms :
- Premature birth
- Club foot
- congenital heart conditions like :
- ASD[Atrial septal defect]
- VSD[ Ventricular septal defect]
- Congenital urological anomalies .
- Imperforate anus / Anal atresia .
Causes :
Exact cause of unilateral agenesis is Idiopathic , but it may cause due to following reasons they are as follows:
- Genetics : It may due to mutation in genes such as RET, BMF4 ,FREM1 or UPK3A.
- Intrauterine growth restriction
- Multiple fetus : Like twins, triplets or more
- Some times two vessel umbilical cord is associated .
- Maternal diabetes
- Intake of drugs, smoking , alcohol etc. during pregnancy
Complications:
In later life these people may get some complications as the whole functions of both kidneys are carried out by single kidney .
- Hyper tension [ Increased blood pressure]
- Proteinuria [ increased protein] – which in turn cause kidney damage .
- Vesicoureteral reflex [ back ward flow of urine into bladder , sometimes may be into kidney ]
- Renal failure
Diagnosis
In fetal stage this condition is detected by Ultra sound scan
- we can observe
- Missing kidneys
- Reduced amniotic fluid [ Oligohydramnios ]
In adults , it can be detected by :
- Incidental diagnosis
- Imagining Tests
- Abdominal ultra sound scan
- Kidney ultra sound scan
- CT scan
- MRI
Preventive Measures and Treatment :
- Avoid,[NSAIDs] Non steroidal Anti-Inflammatory Drugs
- Certain pain killers
- Decrease sodium and sugar intake
- Increase fiber and potassium intake
- Regular check up of BP
- Maintain healthy weight
- Tests like
- kidney function tests
- urine protein test
- Avoid high contact sports like foot ball etc.
Bilateral Renal Agenesis :
It is the the condition in which both kidneys are absent. This is a autosomal recessive disorder ,in which genes occur from both parents .
As both kidneys are absent in this case the baby can’t survive more than few hours , this condition is fatal. As kidneys are responsible for production urine ,which is main component of amniotic fluid in the third trimester of pregnancy .
The urine which is produced recycles the amniotic fluid in uterus and regulate fluid balance and remove waste from body. The amount of amniotic fluid in the uterus depends on the amount of urine excreted by the fetus .
Symptoms :
- Low amniotic fluid
- Potter syndrome
- Respiratory failure
- Other defects like :
- Club foot
- Congenital heart diseases
- Atrial septal defect [ASD]
- Ventricular septal defect [VSD]
- Congenital urological anomalies
- Imperforate anus/ Anal atresia [ Missing anus at the end of digestive tract ]
NOTE :
As both kidneys are absent ,there is no urine output which cause reduction in amniotic fluid [Oligohydramnios] which in turn cause poor development of lungs [too small without enough tissue and blood flow ] causes pulmonary hypoplasia leads to death .
POTTER’S SYNDROME :
Includes :
- Flattened nose
- wide interpupillary space
- Tapering fingers
- Recessed chin
- Low set ears
- Hip dislocation
- pulmonary hypoplasia
Causes :
Main cause of bilateral renal agenesis is idiopathic , the following aspects may be some reasons :
- Genetic mutation
- gestational diabetes
- Intake of certain drugs during pregnancy
- Consumption of alcohol
Diagnosis :
- Ultra sound scan : During prenatal period between 18 and 22 weeks of pregnancy
- signs of bilateral renal agenesis:
- Low amniotic fluid levels
- Absence of kidneys ,renal arteries or bladder is observed .
- signs of bilateral renal agenesis:
- Genetic Testing : Like blood test or amniocentesis.
- MRI
Treatment :
There is no treatment for bilateral renal agenesis , as both kidneys are absent . The baby can’t survive more than few hours .
But , many researches are conducted and they are in progress to get solution for this problem . As a part of research , for treating this condition inject salt water into uterus, so that it restores the amniotic fluid which in turn helps the lungs to develop normally .
Baby is maintained by dialysis procedure until kidney transplantation is done but, this is still in research level.
Conclusion :
Renal agenesis is a congenital condition characterized by the absence of one or both kidneys at birth, with varying degrees of severity and impact on health. While unilateral renal agenesis can often go undetected and lead to relatively normal life expectancy and function .
Bilateral renal agenesis is a more severe condition that is usually fatal due to the inability to filter waste and maintain fluid balance. Early detection through prenatal imaging and management strategies, including dialysis and kidney transplantation for severe cases, are essential in improving outcomes. Research continues to focus on understanding the genetic and environmental factors that contribute to renal agenesis, as well as developing therapies to mitigate its effects. Overall, advancements in prenatal care and neonatal management offer hope for better outcomes for affected individuals.
Reference
- AJOG (American Journal of Obstetrics & Gynecology): Detailed review on causes, incidence, and prognosis.
Link - Oxford Academic (Nephrology): Insights on unilateral renal agenesis and associated risks.
Link - Open Access Journals: Comprehensive article on causes, symptoms, and treatment strategies.
Link - JAMA Network: Overview of bilateral renal agenesis interventions and outcomes.
Link - Springer: Discussion on fetal interventions and outcomes for bilateral cases.
Link
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