De Ziekte van Von Hippel-Lindau

Von Hippel-Lindau (VHL) disease is an autosomal dominant rare tumor syndrome characterized by high penetrance. VHL mutation carriers develop numerous manifestations in multiple organs during life. The natural course of development of new and growth of existing VHL-related manifestations is still unclear. In this study we aimed to gain insight into the development of subsequent manifestations in VHL disease. We retrospectively scored each new VHL-related manifestation as detected by standard follow-up (retina, central nervous system, kidneys and pancreas, excluding adrenal and endolymfatic sac manifestations) in 75 VHL mutation carriers. The Kaplan-Meier method was used to plot the cumulative proportions of all consecutive manifestations in each organ against age. The cumulative average number of manifestations in all organs during life was calculated by summating these cumulative proportions. Poisson model parameters were used to calculate average time to the detection of consecutive VHL manifestations in each organ. Consecutive VHL-related kidney and retina manifestations during life occur linearly according to Poisson distribution model. The total number of VHL manifestations rises linearly, with an average of seven VHL-related lesions at age 60 years. The incidence of consecutive VHL-related manifestations is constant during life in VHL mutation carriers. Our data is consistent with the notion that somatic inactivation of the remaining allele (Knudson’s “two-hit” hypothesis) is the determining factor in developing new VHL-related manifestations.

Voor meer informatie en het gehele artikel: https://link.springer.com/article/10.1007%2Fs10689-019-00131-x

 

 

Endocrinologie Groningen

Dit is de website van de afdeling Endocrinologie van het UMCG.
Deze website is bedoeld voor onze huidige patiënten en voor personenen die verwezen zijn naar onze afdeling, maar ook voor huisartsen. Hier vindt U informatie over verschillende endocriene ziekten, maar ook over onze afdeling, polikliniek, en lopend wetenschappelijk onderzoek.

 

Skin autofluorescence in the general population

This week, researchers from our department published a paper in the journal Diabetologia, on the measurement of skin autofluorescence to estimate the risk of developing type 2 diabetes, cardiovascular disease and mortality. The abstract of the paper is as follows:

Aims/hypothesis
Earlier studies have shown that skin autofluorescence measured with an AGE reader estimates the accumulation of AGEs in the skin, which increases with ageing and is associated with the metabolic syndrome and type 2 diabetes. In the present study, we examined whether the measurement of skin autofluorescence can predict 4 year risk of incident type 2 diabetes, cardiovascular disease (CVD) and mortality in the general population.
Methods
For this prospective analysis, we included 72,880 participants of the Dutch Lifelines Cohort Study, who underwent baseline investigations between 2007 and 2013, had validated baseline skin autofluorescence values available and were not known to have diabetes or CVD. Individuals were diagnosed with incident type 2 diabetes by self-report or by a fasting blood glucose ≥7.0 mmol/l or HbA1c ≥48 mmol/mol (≥6.5%) at follow-up. Participants were diagnosed as having incident CVD (myocardial infarction, coronary interventions, cerebrovascular accident, transient ischaemic attack, intermittent claudication or vascular surgery) by self-report. Mortality was ascertained using the Municipal Personal Records Database.
Results
After a median follow-up of 4 years (range 0.5–10 years), 1056 participants (1.4%) had developed type 2 diabetes, 1258 individuals (1.7%) were diagnosed with CVD, while 928 (1.3%) had died. Baseline skin autofluorescence was elevated in participants with incident type 2 diabetes and/or CVD and in those who had died (all p < 0.001), compared with individuals who survived and remained free of the two diseases. Skin autofluorescence predicted the development of type 2 diabetes, CVD and mortality, independent of several traditional risk factors, such as the metabolic syndrome, glucose and HbA1c.
Conclusions/interpretation
The non-invasive skin autofluorescence measurement is of clinical value for screening for future risk of type 2 diabetes, CVD and mortality, independent of glycaemic measures and the metabolic syndrome.

The full paper can be found online on the Diabetologia website:
https://link.springer.com/article/10.1007%2Fs00125-018-4769-x

HERE you can find a PowerPoint presentation explaining the concept of measuring skin autofluorescence and the results of the paper in more detail.

You may also find useful information on the website of the manufacturer of the AGe-reader:
www.diagnoptics.com

 

Publieke informatie over dit onderzoek vindt u o.a. op:

https://www.rtvnoord.nl/nieuws/201703/UMCG-apparaat-voorspelt-diabetes-en-overlijden

https://www.umcg.nl/NL/UMCG/Nieuws/Persberichten/Paginas/Slim-meetapparaatje-voorspelt-diabetes,-hart–en-vaatziekten-en-overlijden.aspx

https://www.dvhn.nl/groningen/Groningse-uitvinding-maakt-voorspellen-hartinfarct-nog-preciezer-23848890.html

https://www.telegraaf.nl/nieuws/2828789/apparaatje-voorspelt-diabetes-en-overlijden

https://www.newscientist.com/article/2186297-diabetes-can-be-diagnosed-by-simply-shining-a-light-on-your-skin/

http://pennstatehershey.adam.com/content.aspx?productId=35&gid=4300

 

Verhuizing Diabetescentrum 12 november 2018

Het Universitair DiabetesCentrum gaat binnenkort verhuizen. Vanaf 12 november vindt u in ons gebouw De Brug, op de begane grond. De gemakkelijkste ingang is nr. 47 aan de Oostersingel, zie de foto en de plattegrond. U loopt door de draaideur naar binnen, en vindt ons direct aan de linkerkant. Een bushalte is vlak in de buurt op de Oostersingel, of aan de hoofdingang van het UMCG.

Mensen die met de auto komen, parkeren het simpelst in garage Noord, en nemen dan trap of lift aan de noordelijke kant van de garage om pal naast het Diabetescentrum uit te komen. Ook uitermate comfortabel voor toegang voor mensen, die van een rolstoel afhankelijk zijn.

U vindt in de nieuwe locatie alle faciliteiten die belangrijk zijn voor uw zorg, en die u ook gewend was in het oude Triadegebouw: diabetesverpleegkundigen, diëtisten, podotherapeut, internisten, bloedafnamepunt, fundusfotografie, en de wetenschappelijk onderzoekers……