DAMAGE OF THE URINARY SYSTEM IN A CHILD WITH LOWE’S SYNDROME: CLINICAL CASE
This article examines the clinical case of neurogenic bladder dysfunction that occurs in a child with Lowe syndrome. Lowe syndrome is an X-linked disease with a recessive type of inheritance, therefore, this disease is found only in males. This anomaly is quite rare. The syndrome is characterized by polysystem disorders with major abnormalities of the eyes, nervous system and kidneys. At the heart of the development of Lowe syndrome is a mutation of the OCRL-1 gene, which leads to the disruption of inositol phosphate metabolism as a result, there is a defect in the intracellular transport of protein, a violation of endocytic canalic transport, a violation of the primary ciliary function and metabolism in the lens of the eye, and transmission of nerve impulses is also impaired. The characteristic clinical signs of the disease develop: from birth, a dense cataract forms, which is prone to relapse; from birth, such patients have muscle hypotension, which leads to a delay in motor development; there is varying degrees of proximal renal tubular dysfunction according to the type of renal Fanconi syndrome. The treatment of such patients includes pathogenetic and symptomatic therapy, in order to improve their quality of life. Treatment of such patients is a symptom to improve their quality of life. The outcome of a disease is adverse.