CLINICAL CASE OF TUBULOPATHY WITH POLYURIA AND RICKETS SYNDROME (hypophosphatemic rickets?)
Abstract
Relevance. Tubulopathies are tubular kidney diseases characterized by various disorders of the tubular transport of electrolytes, minerals, water and organic substances, hereditary (primary tubulopathies) or acquired (secondary tubulopathies). The study of such diseases is associated with many unresolved issues among patients suffering from this pathology. Challenges remain in timely diagnosis, pharmacological treatment, dispensary observation, and patient rehabilitation. The purpose of the study is to describe a clinical case of a patient with tubulopathy with skeletal deformation and polyuria. Material and research methods. In this article, we wanted to share our own clinical observations of a patient with hereditary tubulopathy with polyuria and manifestations of hypophosphatemic rickets, identified among children in the Fergana Valley of the Republic of Uzbekistan. Results of the study. The clinical case of patient S. showed that due to late diagnosis and late initiation of treatment, the patient developed growth retardation, skeletal deformities, as well as dehydration and acidosis. Conclusion. Early detection and genetic counseling are critical in the treatment of tubulopathies in children, especially in families with a history of chronic kidney disease. Further research is needed to explore the genetic and environmental and social factors (consanguineous marriages) that contribute to the development of these diseases in the region. Conducting a molecular genetic study will make it possible to plan tactical steps for treating the patient and subsequently carry out the prevention of the birth of children with tubulopathy in a particular family.