Late diagnostics of hereditary nephrogenic diabetes insipidus: clinical case
- Authors: Kolomeets N.Y.1, Shulkina S.G.1, Averyanova N.I.1, Rudavina T.I.1, Chernyshova O.I.2, Molokanova A.V.2
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Affiliations:
- E.A. Vagner Perm State Medical University
- P.I. Pichugin Children's Clinical Hospital
- Issue: Vol 40, No 3 (2023)
- Pages: 116-121
- Section: Clinical case
- URL: https://journals.rcsi.science/PMJ/article/view/254870
- DOI: https://doi.org/10.17816/pmj403116-121
- ID: 254870
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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.
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##article.viewOnOriginalSite##About the authors
N. Yu. Kolomeets
E.A. Vagner Perm State Medical University
Author for correspondence.
Email: okolomeets@mail.ru
Candidate of Medical Sciences, Associate Professor, Department of Propaedeutics of Children’s Diseases
Russian Federation, PermS. G. Shulkina
E.A. Vagner Perm State Medical University
Email: okolomeets@mail.ru
MD, PhD, Professor, Department of Polyclinic Therapy
Russian Federation, PermN. I. Averyanova
E.A. Vagner Perm State Medical University
Email: okolomeets@mail.ru
MD, PhD, Professor, Head of the Department of Propaedeutics of Children’s Diseases
Russian Federation, PermT. I. Rudavina
E.A. Vagner Perm State Medical University
Email: okolomeets@mail.ru
Candidate of Medical Sciences, Associate Professor, Department of Propaedeutics of Children’s Diseases
Russian Federation, PermO. I. Chernyshova
P.I. Pichugin Children's Clinical Hospital
Email: okolomeets@mail.ru
nephrologist
Russian Federation, PermA. V. Molokanova
P.I. Pichugin Children's Clinical Hospital
Email: okolomeets@mail.ru
forth-year student, Pediatric Faculty
Russian Federation, PermReferences
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