Late diagnostics of hereditary nephrogenic diabetes insipidus: clinical case

Abstract

Diabetes insipidus belongs to the group of rare heterogeneous diseases, it can manifest at any age and is distinguished by a variety of etiological factors, pathogenetic mechanisms and clinical variants of the debut and course. A significant water-electrolyte imbalance in this type of diabetes is its "calling card". The article presents a description of a clinical case of a preschool patient with early verification and late diagnosis of hereditary nephrogenic diabetes insipidus as a result of the lack of alertness of primary care specialists. Low awareness of parents about the essence of the pathology, insufficient sanitary and cultural level of the family and, as a result, a low level of parental compliance create additional risks for achieving a long-term remission. This case reflects the importance of a thorough history taking, which makes it possible to suspect the hereditary nature of the disease from the first days of a child's life at the outpatient stage. Carrying out timely diagnostics both at the regional and federal levels for further development of treatment tactics, recommendations and a follow-up plan is a necessary step towards improving the patient's quality of life.