DGfN fordert bundesweites Nierenregister - DGfN

Die Deutsche Gesellschaft für Nephrologie e.V. (DGfN) hat ein Impulspapier für ein bundesweites Registersystem zur Nierengesundheit veröffentlicht (1). Ziel ist es, Daten zu chronischer Nierenkrankhei...

dgfn.eu

ADTKD Genetic Test and Treatment Options | Richard Nelson posted on the topic | LinkedIn

🌟 If your family has more than one with kidney disease, AND it’s not PKD, AND your doctor does know why… 2 Million individuals with ADTKD should ask for a genetic test to find out, AND contact rarekid...

linkedin.com

#haltadtkd | Richard Nelson

Hunting for 200 “lost” ADTKD patients out of 2,000,000 worldwide for our clinical trial to validate a promising compound to HALT our deviating disease! Please share, thanks! #HALTadtkd

linkedin.com

NephJC Short: The map and the territory: what measured GFR teaches us about our estimates — NephJC

Is measured GFR more accurate than eGFR for forecasting adverse outcomes?

nephjc.com

Mehrheit mit der AfD in Ethikfragen: Wo die Brandmauer an ihre Grenzen stößt

Der Bundestag stimmt bald ohne Fraktionszwang über ethische Fragen ab. Mehrheiten mit der AfD sollte man da nicht verteufeln, rät der Vorsitzende des Ethikrates.

faz.net

KBV - Kassenärztliche Bundesvereinigung

kbv.de - Die Ausgaben für humangenetische Untersuchungen werden drastisch gekürzt. Der Erweiterte Bewertungsausschuss hat dazu am Dienstag gegen die Stimmen der KBV ein umfassendes Sparpaket beschloss...

kbv.de

Spenderorgane hätten Lars, Michael und Wendt gerettet – doch sie kamen zu spät

Spenderorgane hätten die Leben von Wendt, Lars und Michael retten können. Doch Deutschland hat seit Jahrzehnten zu wenig Organspenden – und die drei Männer haben vergeblich gewartet. Das sind ihre Ges...

faz.net

Transplantationsmedizin mit Bernhard Banas

Organspende betrifft uns alle – und wir sprechen trotzdem selten darüber. Im „Gasthörer“ gibt Prof. Dr. Bernhard Banas Einblicke in eine Medizin zwischen Hochtechnologie, ethischen Fragen und ganz per...

blog.uni-regensburg.de

BROADCAST WITH DR SHARON MCGRODER

YouTube video by James Myers

youtube.com

Autosomal Dominant Tubulo-Interstitial Kidney Disease - Symptoms, Causes, Treatment | NORD

Learn about Autosomal Dominant Tubulo-Interstitial Kidney Disease, including symptoms, causes, and treatments. If you or a loved one is affected by this

rarediseases.org

Autosomal Dominant Tubulointerstitial Kidney Disease: A Review

Autosomal dominant tubulointerstitial kidney disease (ADTKD) is an increasingly recognized rare condition with three primary characteristics: autosomal dominant inheritance, bland urinary sediment (ab...

ajkd.org

Long-Read Sequencing of the MUC1 VNTR: Genomic Variation, Mutational Landscape, and Its Impact on ADTKD Diagnosis and Progression

Background: ADTKD MUC1 is caused by frameshift mutations in MUC1 gene that produce a frameshifted protein (MUC1fs) toxic to kidney cells. The gene s variable number of tandem repeats (VNTR), with high GC content, makes it largely inaccessible to standard sequencing. As a result, both the reference sequence and natural variation in this region remain poorly defined, complicating mutation detection and data interpretation. Standard methods also fail to pinpoint the exact VNTR unit affected, limiting insight into mutation mechanisms and genotype/phenotype correlations. Methods: We employed Single Molecule, Real Time (SMRT) sequencing and characterized the genomic sequence of MUC1 in 300 individuals including 279 individuals from 143 families suspected of having ADTKD MUC1. We compared these results to those obtained using the CLIA approved mass spectrometry based probe extension (PE) assay, which specifically detect the most prevalent 59dupC mutation. We correlated the structural features of the MUC1 VNTR with the rate of kidney function decline in affected individuals. Results: We identified MUC1 consensus sequences for 205 unique VNTR alleles, with 9 distinct types of frameshift mutations present on 52 distinct mutated VNTR alleles. MUC1 frameshift mutations were identified in 71 of 143 families (50%) with suspected ADTKD, comprising 135 genetically affected individuals (48%). The SMRT assay exhibited complete concordance and revealed that the PE assay is capable of detecting frameshift mutations in approximately 85% of affected families. The constellation of VNTR structures supports a genotype progression model, in which fast progressors exhibit a significantly lower number of repeat units on the wild type allele and a higher number of repeats on the mutation bearing allele, including an increased number of frameshifted repeat units. Conclusions: SMRT sequencing outperforms current diagnostic methods for ADTKD-MUC1 and reveals the prognostic value of VNTR structures. Although their contribution to disease progression is modest (~6% variance explained), it remains biologically and clinically meaningful.

dlvr.it

Review Gives Insight Into ADTKD | Docwire News

A review described the clinical characteristics and subtypes of autosomal dominant tubulointerstitial kidney disease (ADTKD), a common monogenic cause of kidney failure.

goo.gl

Review Gives Insight Into ADTKD | Docwire News

A review described the clinical characteristics and subtypes of autosomal dominant tubulointerstitial kidney disease (ADTKD), a common monogenic cause of kidney failure.

docwirenews.com

Mono-allelic pathogenic variants in JAG1 cause autosomal dominant tubulo-interstitial kidney disease (ADTKD-JAG1)

Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a common monogenic kidney disease leading to kidney failure usually during mid adultho…

sciencedirect.com