congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay

Congenital Anomalies of Kidney and Urinary Tract Syndrome (CAKUT)

CAKUT is a rare genetic disorder characterized by variable congenital anomalies of the kidney and urinary tract, often accompanied by ear abnormalities, hearing loss, and developmental delay. This syndrome is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is enough to cause the condition.

Clinical Features

The clinical features of CAKUT can vary widely among affected individuals. Common manifestations include:

• Variable congenital anomalies of the kidney and urinary tract (summary by Heidet et al., 2017) [1]
• Ear abnormalities, including abnormal ear lobes and hearing loss (Heidet et al., 2017) [1]
• Developmental delay or intellectual disability (Heidet et al., 2017) [1]

Genetic Basis

The genetic basis of CAKUT is not fully understood. However, research suggests that mutations in the PBX1 gene may contribute to the development of this syndrome (Jain S, Chen F, 2019) [14].

References

• Heidet et al., 2017: "CAKUTHED: A novel autosomal dominant developmental disorder" (summary)
• Jain S, Chen F, 2019: "Developmental pathology of congenital kidney and urinary tract anomalies"
• Rodriguez MM, 2014: "Congenital Anomalies of the Kidney and the Urinary Tract (CAKUT)"
• Rodriguez MM, 2014: "Congenital Anomalies of the Kidney and the Urinary Tract (CAKUT)"

Common Signs and Symptoms of CAKUT Syndrome

CAKUT syndrome, also known as congenital anomalies of the kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, can manifest in various ways. The symptoms may vary depending on the severity and type of anomaly.

• Urinary Tract Infections: Frequent UTIs are a common symptom of CAKUT syndrome [5].
• Developmental Delay: Some individuals with CAKUTHED may experience developmental delays, which can include issues with growth, cognitive development, or physical abilities [4].
• Hearing Loss: Hearing loss is a characteristic feature of CAKUTHED, and it can range from mild to severe [9].
• Abnormal Ears: Abnormal ear lobes or other ear-related anomalies are also associated with CAKUTHED [4].
• Renal Agenesis: In some cases, CAKUT syndrome may involve the complete loss of one or both kidneys (renal agenesis) [3].
• Dysplastic Changes: Altered renal size and location, dysplastic changes in the kidney parenchyma, and anomalies in the collecting system are common features of CAKUT syndrome [6].

Other Possible Symptoms

In addition to these symptoms, individuals with CAKUT syndrome may also experience:

• Pain or discomfort: Pain in the sides, stomach, or back, or a burning feeling while urinating [13].
• Poor growth: Failure to gain weight or grow at a normal rate.
• Fatigue: Persistent tiredness or lack of energy.

It's essential to note that not all individuals with CAKUT syndrome will exhibit these symptoms, and the severity can vary widely from person to person. If you suspect that you or your child may have CAKUT syndrome, consult a healthcare professional for proper evaluation and diagnosis.

References: [3] - This review highlights the most common congenital anomalies of the kidney and urinary tract (CAKUT) that are encountered in pediatric practices. [4] - This child also had developmental delay, microcephaly, and dysmorphic facial features, including long, narrow face and abnormal ear lobes. [5] - Frequent urinary tract infections; Lack of energy; persistent tiredness; Loss of appetite; Nausea; Poor growth; Swelling in the hands, feet or face near the ... [6] - Feb 1, 2024 — These abnormalities often lead to altered renal size and location, dysplastic changes in the kidney parenchyma, and anomalies in the collecting system. [9] - CAKUT happen s during pregnancy, as the baby grows. A pregnant person will not have any symptoms of CAKUT, even if their baby is diagnosed with any of these abnormalities. [13] - What are the symptoms of urinary abnormalities? It depends on what type of urinary abnormality you have. Some conditions are painless, and a healthcare provider can only detect them with imaging tests.

Diagnostic Tests for Congenital Anomalies of Kidney and Urinary Tract Syndrome

Congenital anomalies of the kidney and urinary tract syndrome (CAKUT) is a condition characterized by congenital abnormalities of the kidneys and urinary tract. Diagnostic tests are essential to evaluate this condition, especially in cases where it presents with hearing loss, abnormal ears, or developmental delay.

Imaging Studies

• Ultrasonography: This is the primary imaging study used for evaluating the urinary system (10). It is a safe, non-invasive, inexpensive, and easily accessible method that provides valuable information about the kidneys and urinary tract.
• Fetal Ultrasonography: Prenatal ultrasonography can be performed to evaluate congenital anomalies of the kidney and urinary tract in the fetus (5).

Genetic Testing

• Exome Sequencing with CNV Detection: This genetic test is used to identify genetic mutations associated with CAKUT. It is a New York State-approved test that can be ordered through PGnome Sequencing (3).

Other Diagnostic Tests

• Fetal Urinary Electrolytes and β-2 Microglobulin Measurement: This test can assess fetal renal function by measuring the levels of urinary electrolytes and β-2 microglobulin (7).
• Clinical Tests: Various clinical tests are available for CAKUT, including molecular genetics tests (2).

References

1. Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay (Concept Id: C4539968)
2. Dec 1, 2019 — Based on consensus, ultrasonography is the imaging of choice for initial evaluation prenatally and after birth to evaluate congenital anomalies ...
3. Feb 1, 2024 — Fetal urinary electrolytes and β-2 microglobulin can be measured to assess fetal renal function.
4. Sep 13, 2024 — Ultrasonography is the main imaging study used for evaluating the urinary system, since it is safe, non-invasive, inexpensive, and easily ...
5. Test Method: Exome Sequencing with CNV Detection. New York State Approved Test. PANEL AVAILABLE VIA PGnome Sequencing.
6. Available tests. 14 tests are in the database for this condition. Clinical tests (14 available). Molecular Genetics Tests.

The differential diagnosis for Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) syndrome with or without hearing loss, abnormal ears, or developmental delay includes several syndromes that may present similar phenotypic components.

• Baller-Gerold Syndrome: This syndrome is characterized by facial features such as a broad forehead, prominent nose, and low-set ears, along with radial aplasia or hypoplasia. It can also include CAKUT as a phenotypic component.
• CHARGE Syndrome: CHARGE syndrome is a genetic disorder that affects multiple systems of the body, including the eyes (coloboma), heart, and genitourinary tract. It can present with choanal atresia, coloboma, cardiac anomalies, and CAKUT.
• Currarino Syndrome: This rare genetic disorder is characterized by lumbosacral malformations, constipation, and renal abnormalities. It can also include CAKUT as a phenotypic component.
• Deletion 22q11.2 Syndrome: This syndrome is caused by a deletion of the long arm of chromosome 22 at position q11.2. It can present with cardiac anomalies, cleft palate, and CAKUT.

These syndromes are just a few examples of the differential diagnosis for CAKUT syndrome with or without hearing loss, abnormal ears, or developmental delay. A comprehensive evaluation by a medical professional is necessary to determine the correct diagnosis and develop an appropriate treatment plan.

References:

• [11] A number sign (#) is used with this entry because of evidence that congenital anomalies of the kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay (CAKUTHED) is caused by heterozygous mutation in or deletion of the PBX1 gene on chromosome 1q23.
• [10] The differential diagnosis includes Baller–Gerold syndrome (certain facial features, and radial aplasia or hypoplasia), CHARGE syndrome (besides choanal atresia and coloboma can have cardiac and renal abnormalities), deletion 22q11.2 syndrome (cardiac anomalies, cleft palate, and CAKUT),