renal agenesis

Renal agenesis, also known as absent kidney or missing kidney, is a congenital disorder characterized by the absence of one or both kidneys at birth.

• Types: There are two types of renal agenesis: unilateral and bilateral. Unilateral renal agenesis refers to the absence of one kidney, while bilateral renal agenesis refers to the absence of both kidneys.
• Causes: Renal agenesis is caused by genetic mutations, also known as pathogenic variants. These mutations can be hereditary or occur spontaneously during embryogenesis and development.
• Incidence: Unilateral renal agenesis occurs in approximately 1 in 1000 live births, while bilateral renal agenesis is less common, occurring in 1 in 3000 to 4000 pregnancies.

The absence of one or both kidneys can have significant implications for affected individuals, impacting their renal function, overall health, and quality of life. In the case of bilateral renal agenesis, it is incompatible with life and is a rare but significant anomaly that requires immediate medical attention.

References:

• [1] Renal agenesis is a congenital disorder characterized by the absence of one or both kidneys at birth.
• [3] Renal agenesis is a congenital defect in which a baby is born without one or both kidneys.
• [5] A rare, congenital renal tract malformation characterized by the complete absence of development of one or both kidneys (unilateral or bilateral renal agenesis).
• [9] Renal agenesis is the congenital absence of the kidneys and can be bilateral or unilateral.

Renal agenesis, also known as kidney agenesis, is a congenital condition where one or both kidneys are missing at birth. The signs and symptoms of renal agenesis can vary depending on whether it's unilateral (one kidney) or bilateral (both kidneys).

Unilateral Renal Agenesis:

• In most cases, babies born with unilateral renal agenesis may not show any symptoms or other birth defects.
• However, the one functioning kidney may grow larger than usual as it works harder to compensate for the missing kidney.
• Some people may discover they have a solitary kidney by chance after having an x-ray, ultrasound, or surgery for an unrelated condition or injury.

Bilateral Renal Agenesis:

• Bilateral renal agenesis is characterized by the absence of kidneys and urine in a baby.
• The face usually consists of wide-set eyes; a "parrot beak" nose; a receding chin, and large low-set ears deficient in cartilage.
• Other symptoms may include excess and dehydrated skin, a prominent fold at the corner of each eye, and clubfoot.

Common Symptoms:

• High blood pressure
• Poorly working kidney
• Urine with protein or blood
• Swelling in the face, hands, or legs

It's essential to note that some people born with renal agenesis may not show any symptoms until later in life. In such cases, the condition may be discovered incidentally during a medical examination.

References:

• [1] Bilateral renal agenesis is characterized by the absence of kidneys and of urine in a baby.
• [2] Most babies live a normal life without any other problems and ...
• [3] Babies born with URA may have signs and symptoms at birth, in childhood, or not ...
• [4] Symptoms can include: high blood pressure, poorly working kidney, urine with protein or blood, swelling in the face, hands, or legs.
• [5] The one kidney often grows larger than usual as it works harder to compensate for the missing kidney.

Renal agenesis, also known as kidney agenesis, can be diagnosed through various imaging tests and examinations.

• Imaging tests: These include:
  • Ultrasound: This is the most common diagnostic test for renal agenesis. It uses high-frequency sound waves to create images of the kidneys and urinary tract.
  • CT scan (Computed Tomography): A CT scan can provide detailed cross-sectional images of the kidneys and surrounding tissues.
  • MRI (Magnetic Resonance Imaging): An MRI can also be used to visualize the kidneys and urinary tract, providing detailed information about their structure and function.
• Other tests: In some cases, additional tests may be performed to evaluate the function of the remaining kidney or to rule out other conditions. These may include:
  • Blood tests: To assess kidney function and detect any abnormalities in blood chemistry.
  • Urine tests: To check for any abnormalities in urine composition or production.
  • Blood pressure monitoring: To monitor blood pressure and detect any potential issues.

Diagnosis during pregnancy: Renal agenesis can be diagnosed during pregnancy through a routine prenatal ultrasound, typically between 18 and 22 weeks of gestation. This is usually the first indication that something may be amiss with the developing fetus's kidneys.

Confirming diagnosis after birth: After birth, further tests and examinations may be performed to confirm the diagnosis and assess the function of any remaining kidney tissue. These may include additional imaging tests, blood and urine tests, and other evaluations as needed.

References: [1] (4) - The absence of renal tissue, along with the absence of the renal artery on the same side, confirms the diagnosis of renal agenesis. [2] (9) - Diagnosis of renal agenesis can be done through imaging tests such as ultrasound, CT scan, or MRI. [3] (14) - Your doctor will use different imaging tests like an ultrasound, magnetic resonance imaging, or surgery to diagnose renal agenesis.

Treatment Options for Renal Agenesis

Renal agenesis, also known as renal aplasia, is a rare congenital condition where one or both kidneys fail to develop properly in the womb. While there is no cure for this condition, various treatment options are available to manage its symptoms and complications.

• Prenatal Treatment: If renal agenesis is detected during pregnancy, prenatal treatment may be necessary to restore amniotic fluid levels and allow the fetus's lungs to develop properly. This typically involves injecting a saline solution into the uterus.
• Postnatal Monitoring: Children born with unilateral renal agenesis require ongoing monitoring by a nephrologist experienced in renal agenesis. Annual blood pressure, urine, and blood tests are necessary to track kidney function and detect any potential complications.

Experimental Treatment for Bilateral Renal Agenesis

Unfortunately, there is currently no established treatment for babies born with bilateral renal agenesis. In such cases, the only available treatment is experimental, and survival rates are extremely low (1) [5].

Treatment for Associated Abnormalities

For children with unilateral renal agenesis, treatment needs will depend on the health of the remaining kidney, any symptoms present, and the presence of associated abnormalities. Regular monitoring by a nephrologist is essential to ensure optimal care (3).

Peritoneal Dialysis Treatments

Babies born with bilateral renal agenesis may require regular peritoneal dialysis treatments to manage their condition (8).

It's worth noting that most children with only one kidney have no symptoms or complications and do not need treatment. However, in some cases, the other kidney may grow larger than normal, which can lead to potential issues (9).

Differential Diagnosis of Renal Agenesis

Renal agenesis, also known as renal aplasia, is a congenital anomaly where one or both kidneys fail to develop properly during embryogenesis. When diagnosing renal agenesis, it's essential to consider differential diagnoses that can mimic the condition.

Key Differential Diagnoses:

• Kidney Ectopia: A condition where a kidney is located outside its normal position, which can be mistaken for renal agenesis.
• Involution of Multi-Cystic Dysplastic Kidneys (MCDK): A rare congenital anomaly where one or both kidneys are replaced by cysts, which can resemble renal agenesis on imaging studies.

Other Considerations:

• Bilateral Renal Agenesis: The absence of both kidneys at birth, which is a more severe form of renal agenesis.
• Chromosomal Disorders: Certain chromosomal abnormalities, such as Turner syndrome or Trisomy 13, can be associated with renal agenesis.

Imaging Studies:

• Ultrasound: A primary imaging modality for diagnosing renal anomalies, including renal agenesis and differential diagnoses like kidney ectopia.
• Computed Tomography (CT) Scan: May be used to confirm the diagnosis of renal agenesis and rule out other conditions.

Clinical Implications:

• Genetic Counseling: Important for families with a history of chromosomal disorders or other genetic conditions associated with renal agenesis.
• Prenatal Diagnosis: Can be performed through ultrasound or other imaging modalities to detect renal anomalies, including renal agenesis.

References:

[1] (Context 2) - Mutations in genes such as RET, BMP4, FRAS1, FREM1, or UPK3A can cause unilateral renal agenesis. [5] (Context 15) - Imaging for renal anomalies is recommended if a uterine anomaly is diagnosed, and the differential diagnosis would include conditions like bicornuate uterus. [9] (Context 9) - Bilateral Renal Agenesis is a genetic disorder characterized by the absence of both kidneys at birth.

Note: The numbers in square brackets refer to the corresponding context numbers.