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. HajrievaRussian Federation
Angelina V. Hajrieva — Radiologist, Radiology Department
11 Dmitry Ulyanov str., Moscow, 117292
N. V. Tarbaeva
Russian Federation
Natal’ja V. Tarbaeva — Cand. of Sci. (Med.), Head of Radiology Department
11 Dmitry Ulyanov str., Moscow, 117292
N. N. Volevodz
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
Russian Federation
Lilija D. Kovalevich — Radiologist, Radiology Department
11 Dmitry Ulyanov str., Moscow, 117292
K. A. Komshilova
Russian Federation
Ksenija A. Komshilova — Cand. of Sci. (Med.), endocrinologist, department of Therapeutic endocrinology
11 Dmitry Ulyanov str., Moscow, 117292
N. M. Platonova
Russian Federation
Nadezhda M. Platonova — Dr. of Sci. (Med.), Head of department of Therapeutic endocrinology
11 Dmitry Ulyanov str., Moscow, 117292
N. V. Latkina
Russian Federation
Nonna V. Latkina — Cand. of Sci. (Med.), surgeon, department of Surgery
11 Dmitry Ulyanov str., Moscow, 117292
N. S. Kuznecov
Russian Federation
Nikolaj S. Kuznecov — Dr. of Sci. (Med.), Professor, Head of department of Surgery
11 Dmitry Ulyanov str., Moscow, 117292
V. Yu. Kalashnikov
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
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
1. Maher E.R., Iselius L., Yates J.R. et al. Von Hippel–Lindau disease: a genetic study // J. Med. Genet. 1991. No. 28. Р. 443–447.
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