Autosomal dominant tubulointerstitial kidney disease in the child

Introduction. Autosomal dominant tubulointerstitial kidney disease (ADTID) is a rare genetically determined disease associated with a slowly progressive decline in renal function in the absence of changes in urine tests. Mutations in the genes for uropodulin (UMOD), renin (REN), mucin-1 (MUC1), and hepatocyte nuclear factor 1β (HNF1β) are known. Pathology in the UMOD gene is clinically manifested by minimal proteinuria (or its absence), a slowly progressive course of chronic kidney disease with onset in adolescence, and hyperuricemia. The aim: to present a clinical observation of autosomal dominant tubulointerstitial kidney disease associated with a mutation in the UMOD gene.
Materials and methods. A clinical description of a case of molecular genetic diagnosis of ADTID in the child with a complicated hereditary history on the mother’s side. All the patient’s close relatives had gout and chronic tubulointerstitial nephritis with a progression to chronic renal failure.
Results. Based on the patient’s medical history, the prognosis for autosomal dominant tubulointerstitial kidney disease remains unfavorable. Most patients eventually develop end-stage chronic kidney disease. In adolescents and young adults, the disease tends to progress more rapidly than in later-onset cases.
Conclusion. The low awareness of pediatricians and insufficient vigilance regarding rare forms of kidney pathology, coupled without specificity of their early clinical manifestations, make it difficult to detect the disease in a timely manner, which in turn worsens the prognosis for patients. ATDBP-UMOD presents a challenging diagnostic task that requires a comprehensive approach, including the analysis of family history, clinical presentation, and genetic testing results. This is crucial for early detection, timely initiation of treatment, and successful kidney transplantation.

children, autosomal dominant tubulointerstitial kidney disease, UMOD, NGS, chronic renal failure, hyperuricemia

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