An Update on the Oculocerebrorenal Syndrome of Lowe: A Review Article

Lowe syndrome (LS) is a very uncommon syndrome that causes the death of young patients due to kidney diseases. This narrative review aimed to assess the clinical manifestations of LS, mainly the novel investigations of LS, to provide an update on the clinical manifestations improving the misdiagnosis of LS.

For this narrative review, the articles from several sources, including Scopus, Google Scholar, Embase, Web of Science, PubMed, and the Directory of Open Access Journals, were used.

This syndrome is heredity and a multiple system disorder with the three main symptoms of renal tubular dysfunction, mental retardation, and cataracts. Other features include growth retardation, behavioral problems, stereotypical behavior, areflexia, severe muscular hypotonia, intellectual disability, nontender joint swelling, subcutaneous nodules, potassium loss, sodium loss, renal dysfunction, aminoaciduria, bicarbonaturia, and low-molecular-weight proteinuria. An X-linked recessive pattern inherits this syndrome. The hereditary transmission of this syndrome is X-linked recessive.

It is essential to investigate the diverse clinical manifestations of LS. The prognosis and severity of the disease have not yet been determined. It is recommended to perform extensive general studies on the prevalence, diagnosis, and management of this syndrome.