Clinical observation of multisystem organ damage caused by HNF1B mutation

In recent years, an increasing amount of research has focused on genetic breaks in human DNA accompanied by multisystemic lesions. Such is hepatocyte nuclear factor 1β (HNF1B) mutations, including polycystic kidney disease, diabetes mellitus, abnormalities of the sexual system, as well as disorders in the development of the nervous, digestive and endocrine systems. The peculiarity of these disorders is considered to be the absence of family history and pathognomonic symptoms that would indicate the mutation. The article describes the clinical case of patient K., 4 months old, diagnosed with congenital cystic renal dysplasia with associated gastrointestinal and endocrine lesions. To confirm the genetic disease, the patient underwent DNA sequencing, which showed a nucleotide sequence substitution in the HNF1B gene.