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Diagnostic radiology and radiotherapy

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Von Hippel-Lindau syndrome: a clinical case

https://doi.org/10.22328/2079-5343-2023-14-2-93-101

Abstract

The study of the genetic aspects of endocrine diseases is based on the aspiration to develop the methods of early diagnosis, treatment and observation of patients. Von Hippel-Lindau syndrome is genetically determined disease characterized by damage of various organs and systems. The article presents a clinical case of treatment of a patient with retinal detachment who was first admitted to the surgical department of the Federal State Budgetary Institution «NMIC of Endocrinology» of the Ministry of Health of Russia with complaints of dry mouth, general weakness. Further examination, revealed pathological changes in the adrenal glands, kidneys, brain, pancreas, spleen, spinal cord. The presented clinical case demonstrates the need for a multidisciplinary approach to the management of patients with von Hippel-Lindau syndrome.

About the Authors

A. V. Hajrieva
Endocrinology research center of the Russian Federation
Russian Federation

Angelina V. Hajrieva — Radiologist, Radiology Department

11 Dmitry Ulyanov str., Moscow, 117292



N. V. Tarbaeva
Endocrinology research center of the Russian Federation
Russian Federation

Natal’ja V. Tarbaeva — Cand. of Sci. (Med.), Head of Radiology Department

11 Dmitry Ulyanov str., Moscow, 117292



N. N. Volevodz
Endocrinology research center of the Russian Federation
Russian Federation

Natal’ja N. Volevodz — Dr. of Sci. (Med.), Professor, Deputy Director for Research, Head of consulting and diagnostic center

11 Dmitry Ulyanov str., Moscow, 117292



L. D. Kovalevich
Endocrinology research center of the Russian Federation
Russian Federation

Lilija D. Kovalevich — Radiologist, Radiology Department

11 Dmitry Ulyanov str., Moscow, 117292



K. A. Komshilova
Endocrinology research center of the Russian Federation
Russian Federation

Ksenija A. Komshilova — Cand. of Sci. (Med.), endocrinologist, department of Therapeutic endocrinology

11 Dmitry Ulyanov str., Moscow, 117292



N. M. Platonova
Endocrinology research center of the Russian Federation
Russian Federation

Nadezhda M. Platonova — Dr. of Sci. (Med.), Head of department of Therapeutic endocrinology

11 Dmitry Ulyanov str., Moscow, 117292



N. V. Latkina
Endocrinology research center of the Russian Federation
Russian Federation

Nonna V. Latkina — Cand. of Sci. (Med.), surgeon, department of Surgery

11 Dmitry Ulyanov str., Moscow, 117292



N.  S. Kuznecov
Endocrinology research center of the Russian Federation
Russian Federation

Nikolaj S. Kuznecov — Dr. of Sci. (Med.), Professor, Head of department of Surgery

11 Dmitry Ulyanov str., Moscow, 117292



V. Yu. Kalashnikov
Endocrinology research center of the Russian Federation
Russian Federation

Victor Ju. Kalashnikov — Corresponding Member of the Russian Academy of Sciences, Dr. of Sci. (Med.), Professor, Deputy Director for coordination of the Endocrinological Service, Head of department of cardiology and vascular surgery

11 Dmitry Ulyanov str., Moscow, 117292



N. G. Mokrysheva
Endocrinology research center of the Russian Federation
Russian Federation

Natalia G. Mokrysheva — Corresponding Member of the Russian Academy of Sciences, Dr. of Sci. (Med.), Professor, Director of the Center

11 Dmitry Ulyanov str., Moscow, 117292



References

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2. Latif F., Tory K., Gnarra J. et al. Identification of the von Hippel–Lindau disease tumor suppressor gene // Science. 1993. No. 260. Р. 1317–1320.

3. Chen F., Kishida T., Yao M. et al. Germline mutations in the von Hippel–Lindau disease tumor suppressor gene: correlation with phenotype // Hum. Mutat. 1995. No. 5. Р. 66–75.

4. DeLellis R.A., Lloyd R.V., Heitz P.U. et al. World Health Organization classification of tumors: Pathology and genetics of tumours of endocrine organs. Lyon: IARC Press, 2004.

5. Gross D., Avishai N., Meiner V. et al. Familial pheochromocytoma associated with a novel mutation in the von Hippel–Lindau gene // JCEM. 1996. No. 81. Р. 147–149.

6. Wanebo J.E., Lonser R.R., Glenn G.M. et al. The natural history of hemangioblastomas of the central nervous system in patients with von Hippel-Lindau disease // J. Neurosurg. 2003. No. 98. Р. 82–94.


Review

For citations:


Hajrieva A.V., Tarbaeva N.V., Volevodz N.N., Kovalevich L.D., Komshilova K.A., Platonova N.M., Latkina N.V., Kuznecov N.S., Kalashnikov V.Yu., Mokrysheva N.G. Von Hippel-Lindau syndrome: a clinical case. Diagnostic radiology and radiotherapy. 2023;14(2):93-101. (In Russ.) https://doi.org/10.22328/2079-5343-2023-14-2-93-101

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ISSN 2079-5343 (Print)