Hippel's disease - Lindau (cerebroretinal angiomatosis, English Von Hippel – Lindau disease - VHL ) - phacomatosis , in which cerebellar hemangioblastomas are combined with spinal cord angiomas , multiple congenital cysts of the pancreas and kidneys. A quarter of patients develop kidney carcinoma, often primary multiple. Symptoms of the disease become apparent in the 2nd decade of life - one of the first to detect hemorrhage in the eyeball or in the posterior cranial fossa with signs of intracranial hypertension or cerebellar disorders. In most patients, an increase in protein content is found in the cerebrospinal fluid , in half of children with cerebellar tumors, an increase in the number of cells.
| Hippel's Disease - Lindau | |
|---|---|
| ICD-10 | Q 85.8 |
| ICD-10-KM | |
| ICD-9 | 759.6 |
| ICD-9-KM | |
| Omim | 193300 |
| Diseasesdb | 14000 |
| eMedicine | ped / 2417 oph / 354 |
| Mesh | and |
Retinal hemangiomas are often noted. Due to the violation of the permeability of the walls of the capillaries, sub- and intraretinal exudate containing lipids can accumulate in them. In the late stages of the disease, exudative retinal detachment develops.
Etiology
The disease is inherited autosomally dominantly due to a mutation of the tumor suppressor gene ( VHL ) located on the short arm of the 3rd chromosome (3p25.3) [2] .
Epidemiology
The prevalence of VHL is 1 in 36,000 newborns. In individuals with the corresponding mutation, by the age of 65 years, the disease develops with a 95% probability [3] . The age at the time of diagnosis varies from infancy to 60-70 years, with an average patient age of 26 years.
Notes
- ↑ Monarch Disease Ontology release 2018-06-29sonu - 2018-06-29 - 2018.
- ↑ Wong WT, n E, Agró Coleman HR et al. (February 2007). "Genotype-phenotype correlation in von Hippel-Lindau disease with retinal angiomatosis." Archives of ophthalmology 125 (2): 239-45. doi: 10.1001 / archopht.125.2.239 . PMC 3019103 . PMID 17296901 . Retrieved 2014-09-04.
- ↑ Kim, JJ; Rini, BI; Hansel, DE Von Hippel Lindau syndrome (Eng.) // Advances in Experimental Medicine and Biology . - Springer Nature 2010. - Vol. Advances in Experimental Medicine and Biology . - P. 228-249 . - ISBN 978-1-4419-6447-2 . - DOI : 10.1007 / 978-1-4419-6448-9_22 . - PMID 20687511 .