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.

Keywords

Hereditary nephrogenic diabetes insipidus / clinical case / molecular genetic diagnosis

References

[1] Cannon J.F. Diabetes Insipidus. A.M.A. Archives of Internal Medicine. 1955; 96 (2): 215. DOI: 10.1001/archinte.1955.00250130089012.

[2] Cannon J.F. Diabetes Insipidus. A.M.A. Archives of Internal Medicine 1955; 96 (2): 215. DOI: 10.1001/archinte.1955.00250130089012.

[3] Farini F. About diabetes insipidus and hypophysiotherapy. Wien Klin Wochenschr. 1913; 26: 1867. de Lange C. Ueber erblichen diabetes insipidus Jahrbuch fuer Kinderheilkunde. 1935; 145: 135.

[4] Forssman H.H. On hereditary diabetes insipidus. Acta Medica Scandinavica 1945; 121. Waring A.J.K., Tappan V. A congenital defect of water metabolism. American Journal of Diseases of Children 1945; 69: 323–4.

[5] Williams R.H., Henry C. Nephrogenic Diabetes Insipidus: Transmitted by Females and Appearing during Infancy in Males. Annals of Internal Medicine. 1947; 27 (1): 84. DOI: 10.7326/0003-4819-27-1-84.

[6] Williams R.H., Henry C. Nephrogenic Diabetes Insipidus: Transmitted by Females and Appearing during Infancy in Males. Annals of Internal Medicine 1947; 27 (1): 84. DOI: 10.7326/0003-4819-27-1-84.

[7] Savenkova N.D., Semenova O.A., Stepanova A.A. Congenital nephrogenic diabetes insipidus in children and adolescents. New therapy strategy. Nephrology 2017; 21 (3): 9–17 (in Russian).

[8] Савенкова Н.Д., Семенова О.А., Степанова А.А. Врождённый нефрогенный несахарный диабет у детей и подростков. Новая стратегия терапии. Нефрология 2017; 21 (3): 9–17.

[9] Knoers N., Levtchenko E.N. Nephrogenic diabetes insipidus. In: ED Avner, WE Harmon, P Niaudet, N Yoshikawa. Pediatric nephrology: 6-th edition. Berlin-Heidelberg: Springer-Verlag 2009; 1 (1–6), 1005–1018.

[10] Knoers N., Levtchenko E.N. Nephrogenic diabetes insipidus. Avner E.D., Harmon W.E., Niaudet P., Yoshikawa N. Pediatric nephrology. 6-th edition. Berlin-Heidelberg: Springer-Verlag 2009; 1 (1–6): 1005–1018.

[11] Wesche D., Deen P., Knoers N. Сongenital nephrogenic diabetes insipidus: the current state of affairs. Pediatr Nephrol. 2012; 27 (12): 2183–2204.

[12] Wesche D., Deen P., Knoers N. Сongenital nephrogenic diabetes insipidus: the current state of affairs. Pediatr Nephrol. 2012; 27 (12); 2183–2204.

[13] Szalai L., Sziráki A., Erdélyi L.S., Kovács K.B., Tóth M., Tóth A.D., Turu G., Bonnet D., Mouillac B., Hunyady L., Balla A. Functional Rescue of a Nephrogenic Diabetes Insipidus Causing Mutation in the V2 Vasopressin Receptor by Specific Antagonist and Agonist Pharmacochaperones. Front Pharmacol. 2022; 13: 811836. DOI: 10.3389/fphar.2022.811836.

[14] Bichet D.G., Bockenhauer D. Genetic forms of nephrogenic diabetes insipidus (NDI): Vasopressin receptor defect (X-linked) and aquaporin defect (autosomal recessive and dominant). Best Pract Res Clin Endocrinol Metab 2016; 30: 263–276.

[15] Tyuzikov I.A., Kalinchenko S.Yu., Vorslov L.O., Tishova Yu.A. Vasopressin: non-classical effects and role in the pathogenesis of age-associated diseases. Effective pharmacotherapy 2015; 26: 38–50 (in Russian).

[16] Тюзиков И.А., Калинченко С.Ю., Ворслов Л.О., Тишова Ю.А. Вазопрессин: неклассические эффекты и роль в патогенезе ассоциированных с возрастом заболеваний. Эффективная фармакотерапия 2015; 26: 38–50.

[17] Osmanov I.M., Zakharova I.N., Kol'be O.B., Mumladze E.B., Bekmurzaeva G.B., Tambieva E.V. Primary tubulopathies. Russian Bulletin of Perinatology and Pediatrics 2018; 63 (1): 81–89 (in Russian).

[18] Османов И.М., Захарова И.Н., Кольбе О.Б., Мумладзе Э.Б., Бекмурзаева Г.Б., Тамбиева Е.В. Первичные тубулопатии. Российский вестник перинатологии и педиатрии 2018; 63 (1); 81–89.

RIGHTS & PERMISSIONS

Kolomeets N.Y., Shulkina S.G., Averyanova N.I., Rudavina T.I., Chernyshova O.I., Molokanova A.V.