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 with or without hearing loss, abnormal ears, or developmental delay is a condition that affects the development of the kidneys and urinary tract, and may also impact hearing and cognitive development. The condition is associated with pathogenic variants in the PBX1 gene, which plays a role in normal organ development. It is inherited in an autosomal dominant pattern, meaning that inheriting one altered copy of the gene can be sufficient to cause the condition. Because precise prevalence data is not available, its frequency is described in general terms rather than as a specific rate.

Individuals with this syndrome may experience a range of symptoms affecting multiple organ systems. Neurologically, many affected children present with global developmental delay, indicating challenges in cognitive and learning functions. In addition, hearing impairment is reported, which can impact language and communication development. Renal anomalies are a key feature, with some patients having renal hypoplasia, absence of renal corticomedullary differentiation, unilateral renal agenesis, or a horseshoe kidney. Not all individuals experience all features, and severity varies considerably.

This condition is linked to alterations in the PBX1 gene, a gene that is important in the regulation of organ development and tissue differentiation. It is inherited in an autosomal dominant pattern, which means that a single pathogenic variant is sufficient to result in the condition. As a result, there is a possibility that an affected individual may have an affected parent, although some cases may arise from new mutations. Genetic counseling is recommended to help families understand the implications for family planning and the variable nature of the condition.

Currently, management focuses on supportive care and symptom management rather than on any approved or foundational therapies. Treatment is tailored to the individual and typically involves a multidisciplinary team to address the various aspects of the condition. Regular surveillance is an essential part of long-term care, helping to identify potential complications early, whether those relate to renal function, hearing, or developmental progress. Patients should discuss treatment options with their healthcare team to determine which therapies may be appropriate for their specific situation, and genetic counseling is recommended to guide families through the implications of the autosomal dominant inheritance pattern.

Outcomes for individuals with this condition can vary widely, with the clinical spectrum ranging from mild to more significant involvement of kidney, hearing, and cognitive functions. With current standards of care, many affected individuals can experience improved quality of life through supportive management and regular surveillance for complications. Outcomes described in medical literature continue to evolve as standards of care improve. Families often find it helpful to connect with specialists familiar with the condition, and genetic counseling can provide further guidance on managing long-term expectations.