Urological disorders in adrenoleukodystrophy / adrenomyeloneuropathy

Abstract

Adrenoleukodystrophy (ALD) is the most common peroxisomal disease of X-linked recessive inheritance caused by a mutation in the ABCD 1 gene located on chromosome Xq28. A characteristic feature of ALD is the lack of correlation between genotype and phenotype. Depending on the time of onset, the main manifestations, and the rate of symptom progression, there are 6 main forms of the disease, but the most common is adrenomyeloneuropathy (AMN). When carefully examining patients with AMI, in most cases it is possible to identify urological pathology manifested by overactive bladder in both sexes and hypogonadism in men, which are hidden behind other numerous neurological symptoms and often remain undiagnosed. To date, there are few works devoted to the peculiarities of pathogenesis, clinical course, diagnosis and treatment of this pathology in ALD. In this article, we reviewed the current literature data on neurogenic bladder dysfunction and hypogonadism in ALD.