Congenital Nephrogenic Diabetes Insipidus in Children and Adolescents. The New Strategy of Therapy

There is a global trend towards an increase in the prevalence of diabetes insipidus. Symptoms of nephrogenic diabetes insipidus with X-linked inheritance appear in men, in women with heterozygous mutations, are characterized by an isolated symptom complex of polyuria, polydipsia, hypostenuria. In children, more often than in adults, with fluid restriction, a clinic of water-deficient dehydration develops with hypernatremia, hyperthermia, and plasma hyperosmolality. This manuscript presents a case of Nephrogenic diabetes insipidus, X-linked familial form in male patients.At the same time, in the family along the female line, the mother and grandmother also had an increased need for water, the use of minirin was ineffective. In the older brother and younger brother, clinical manifestations of diabetes insipidus in the form of severe thirst and polyuria were noted from infancy, after the examination, the diagnosis was made — diabetes insipidus and desmopressin was prescribed.Due to the lack of effect from the use of desmopressin, the analysis of exons and adjacent sections of the introns of the AQP2 and AVPR2 genes was carried out by PCR and subsequent direct sequencing. No mutations were found in the AQP2 gene. The hemizygous substitution S315I was found in the AVPR2 gene. The familial form X was confirmed — linked nephrogenic diabetes insipidus. A hypothiazide was recommended, against the background of constant intake of which only a slight positive trend is observed.

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Family form of nephrogenic Х-linked diabetes insipidus

Klepalova

Pushkareva

Iziurova

et al. 2022

Probl Endokrinol (Mosk)

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Late diagnostics of hereditary nephrogenic diabetes insipidus: clinical case

Kolomeets,

Shulkina,

Averyanova

et al. 2023

Perm Medical Journal

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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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Congenital Nephrogenic Diabetes Insipidus in Children and Adolescents. The New Strategy of Therapy

Cited by 2 publications

References 8 publications

Family form of nephrogenic Х-linked diabetes insipidus

Family form of nephrogenic Х-linked diabetes insipidus

Late diagnostics of hereditary nephrogenic diabetes insipidus: clinical case

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