Clinical review for general practice

ISSN (Print) 2713-2552
ISSN (Online) 2782-5671
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FULLSCREEN > Archive > 2024 > Vol 5, №11 (2024) > Clinical observation of multisystem organ damage caused by HNF1B mutation

Clinical observation of multisystem organ damage caused by HNF1B mutation

Larisa Yu. Popova , Galina D. Alemanova , Akmer A. Albakasova , Anastasia I. Shishkina , Loyman M. Allahverdiev

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Abstract

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.
Keywords: multisystemic, HNF1B gene, polycystic kidney disease, diabetes mellitus.

About the Author

Larisa Yu. Popova 1 , Galina D. Alemanova 1 , Akmer A. Albakasova 1 , Anastasia I. Shishkina 2 , Loyman M. Allahverdiev 1

1 Orenburg State Medical University, Orenburg, Russia

2 Regional Children's Clinical Hospital, Orenburg, Russia

References

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2. Econimo L, Schaeffer C, Zeni L. Autosomal Dominant Tubulointerstitial Kidney Disease: An Emerging Cause of Genetic CKD. Kidney Int Rep 2022;7(11):2332-44. DOI: 10.1016/j.ekir.2022.08.012
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4. Francis Y, Tiercelin C, Alexandre-Heyman L. HNF1B-MODY Masquerading as Type 1 Diabetes: A Pitfall in the Etiological Diagnosis of Diabetes. J Endocr Soc 2022;6(8). DOI: 10.1210/jendso /bvac087
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8. Made CI, Hoorn EJ, Faille R et al. Hypomagnesemia as First Clinical Manifestation of ADTKD-HNF1B: A Case Series and Literature Review. Am J Nephrol 2015;42(1):85-90. DOI: 10.1159/000439286
9. Niborski LL, Paces-Fessy M, Ricci P. Hnf1b haploinsufficiency differentially affects developmental target genes in a new renal cysts and diabetes mouse model. Dis Model Mech 2021; 14(5). DOI: 10.1242/dmm.047498
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For citation:Popova L.Yu., Alemanova G.D., Albakasova A.A., Shishkina A.I., Allahverdiev L.M. Clinical observation of multisystem organ damage caused by HNF1B mutation. Clinical review for general practice. 2024; 5 (11): 149–153 (In Russ.). DOI: 10.47407/kr2024.5.11.00529


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