bilateral renal aplasia

Bilateral Renal Aplasia: A Rare Congenital Disorder

Bilateral renal aplasia, also known as Potter syndrome, is a rare congenital disorder characterized by the complete absence of both kidneys at birth [3]. This condition occurs in about 1 in every 3,000 to 4,500 live births [3].

Key Features:

• Absence of Both Kidneys: Bilateral renal aplasia involves the complete failure of both kidneys to develop during fetal development [1].
• Wide-Set Eyes and Dry Loose Skin: Babies with this condition often have wide-set eyes and dry loose skin, which are unique characteristics [2].
• Prominent Folds at Inner Canthi: The inner corners of their eyes may also have prominent folds [2].

Prevalence and Causes:

• Rare Condition: Bilateral renal aplasia is a rare condition, occurring in an estimated 1 out of every 4,000 to 5,000 newborns [5].
• Genetic Disorder: It is considered a genetic disorder, although the exact cause remains unknown [1].

Prognosis:

• Severe Condition: Bilateral renal aplasia falls at the most severe end of the spectrum of congenital anomalies of the kidney and urinary tract (CAKUT) [6].
• Usually Fatal: Unfortunately, this condition usually results in death due to the absence of fetal renal function [6].

References:

[1] Dec 22, 2021 — Bilateral Renal Agenesis is the absence of both kidneys at birth. It is a genetic disorder characterized by a failure of the kidneys to develop ...

[2] Sep 6, 2024 — Babies with bilateral renal agenesis will have several unique characteristics: dry loose skin, wide-set eyes, prominent folds at the inner ...

[3] Bilateral renal agenesis, also known as Potter syndrome, means that both kidneys are missing. This occurs in about one in every 3,000 to 4,500 live births and ...

[5] Bilateral renal agenesis, the absence of both kidneys, is rare, occurring in an estimated 1 out of every 4,000 to 5,000 newborns. The defect is more common in ...

[6] Renal aplasia falls at the most severe end of the spectrum of congenital anomalies of the kidney and urinary tract (CAKUT; 610805), and usually results in death ...

Bilateral renal aplasia, also known as bilateral renal agenesis, is a rare congenital disorder characterized by the absence of both kidneys at birth. The signs and symptoms of this condition can be severe and life-threatening.

Physical Characteristics

• Dry loose skin [3]
• Wide-set eyes [3]
• Prominent folds at the inner corners of the eyes [3]

Medical Complications

• Underdeveloped lungs (pulmonary hypoplasia), leaving them too small to support the baby's oxygen needs at birth [6]
• Deformities of the limbs, face, and other organs [6]
• High blood pressure [7]
• Poorly working kidney [7]
• Urine with protein or blood [7]
• Swelling in the face, hands, or feet due to fluid buildup [7]

Other Complications

• Backward flow of urine from the bladder into tubes, called ureters, and sometimes the kidneys [8]
• High blood pressure can lead to further complications such as heart problems and vision loss [8]

It's essential to note that these symptoms can vary in severity and may not be present in every individual with bilateral renal aplasia. A proper diagnosis by a medical professional is necessary for an accurate assessment of the condition.

References: [3] - Search result 3 [6] - Search result 6 [7] - Search result 7 [8] - Search result 8

Bilateral renal aplasia, also known as bilateral renal agenesis, is a rare congenital condition where both kidneys are absent or not developed at birth. Diagnostic tests for this condition typically involve imaging studies and genetic testing.

• Prenatal Ultrasound: A prenatal ultrasound during pregnancy can detect low levels of amniotic fluid (oligohydramnios) that can indicate renal agenesis [2]. This ultrasound can also visualize the absence or underdevelopment of one or both kidneys.
• MRI (Magnetic Resonance Imaging): An MRI may be recommended to confirm the diagnosis and assess the extent of kidney development [1].
• Genetic Testing: While bilateral renal aplasia is usually not genetic, in rare cases, it can be inherited. Genetic testing, such as chromosomal microarray analysis (CMA), may be offered when bilateral renal agenesis is suspected [9]. However, this condition is typically not diagnosed through genetic testing.
• Amniocentesis or Chorionic Villus Sampling: These tests can provide a sample of the amniotic fluid or placental tissue to assess for any chromosomal abnormalities that may be associated with bilateral renal aplasia [9].

It's essential to note that diagnosis is primarily based on imaging studies, such as ultrasonography, which shows an empty renal fossa and no ectopic kidney [6].

Unfortunately, there is no established drug treatment for bilateral renal aplasia (BRA). The condition is usually diagnosed during fetal development or shortly after birth, and the prognosis is generally poor.

According to available information [1], babies with BRA typically do not survive beyond a few hours after birth. However, some experimental treatments have been explored in clinical studies.

One such treatment is serial amnioinfusion, which was reported in a case study published in 2014 [5]. In this study, the newborn survived the newborn period and was able to undergo further medical evaluation. However, it's essential to note that this treatment is still considered experimental and not widely available.

Another experimental therapy being explored is Renal Anhydramnios Fetal Therapy (RAFT) [7]. This treatment aims to improve fetal kidney development in utero, but its effectiveness and availability are currently limited.

It's also worth noting that some babies with BRA may be eligible for clinical trials or other experimental treatments. However, these options are typically only available through specialized medical centers and may not be widely accessible.

In summary, while there is no established drug treatment for bilateral renal aplasia, experimental therapies like serial amnioinfusion and RAFT are being explored in clinical studies. However, the prognosis for babies with BRA remains generally poor, and further research is needed to improve outcomes.

References: [1] Context result 1 [5] Context result 5 [7] Context result 7

Bilateral renal aplasia, also known as bilateral renal agenesis, is a rare congenital condition where both kidneys fail to develop during fetal growth. When it comes to differential diagnosis, there are several conditions that need to be ruled out to confirm the presence of bilateral renal aplasia.

• Kidney Ectopia: This is a condition where one or both kidneys are located outside their normal position in the abdominal cavity. It can sometimes be mistaken for bilateral renal aplasia, but it's essential to note that kidney ectopia typically involves only one kidney.
• Involution of Multi-cystic Dysplastic Kidneys (MCDK): MCDK is a condition where one or both kidneys develop cysts and fail to function properly. In some cases, the affected kidney(s) may appear empty on imaging studies, which can be mistaken for bilateral renal aplasia.
• Other Renal Abnormalities: There are several other rare congenital conditions that affect the development of the kidneys, such as renal hypoplasia or dysplasia. These conditions need to be ruled out through further diagnostic testing.

According to search result [6], differential diagnosis is crucial in cases of bilateral renal agenesis to rule out these and other potential causes. It's essential for healthcare providers to carefully evaluate imaging studies and medical history to confirm the presence of bilateral renal aplasia.

References: * Search result 6: "Bilateral renal agenesis is said to carry a recurrence risk of 3% for sporadic cases. Differential diagnosis. It is important to differentiate..."