HEREDITARAY
KIDNEY DISEASE
ADTKD
Support Group
ADTKD is the medical term for a group of genetic kidney diseases and stands for
Autosomal
Dominant
Tubulointerstitial
Kidney
Disease. Matryoshka symbolizes the inheritance from generation to generation.
This website provides information for affected families as well as doctors, supporters and sponsors. We welcome donations.
"Every nephrologist cares for an
ADTKD-Family."
Anthony Bleyer, Wake Forest University
Here you will find a report on the
ADTKD-UMOD
Patient Day, which took place at the Freeman Hospital
Newcastle
in June 2024. Experts provided
information
on various aspects of the disease, such as
symptoms,
genetic diagnostics and
therapeutic
options. An active
substance
has been identified in the USA that may be able to
slow down the progression of the disease.
To the detailed report
The first webinar for patients withautosomal dominant tubulointerstitial kidney disease (ADTKD) in Germany took place at the end of 2024. Prof. Dr. Michael Wiesener, ADTKD expert from Erlangen University Hospital, gave a comprehensive overview of the causes and symptoms, genetic diagnostics and the state of research into possible therapies. A European ADTKD registeris currently being set up, for which as many patients as possible are needed.
To the detailed report
ERKNet/ERA Webinar: ADTKD
Jan Halbritter, Charité – Universitätsmedizin Berlin & Christian Scheidler, ADKTD Vision Cure e.V.
Topics include indications for genetic testing, subtypes and variants, biological and clinical characteristics, modern diagnostic procedures, especially for ADTKD-MUC1, and potential treatments.
To the recording:
ADTKD at ASN Kidney Week
Never before have there been so many research papers on
autosomal dominant tubulointerstitial kidney disease (ADTKD)
as this time at the
American Society of Nephrology's (ASN)
Kidney Week, which takes place from October 24 to 28 in San Diego. Also European working
groups are represented . Here is an overview of
the
abstracts.
ERA Conference 2024
ADTKD diagnostics in Europe: Where do we stand and what is needed?
Under the title "ADTKD genetic diagnostics in Europe: Where do we stand and what is needed?", our patient organization was represented with its own contribution at this year's conference of the
European Renal Association (ERA)
in Stockholm/Sweden. The most important
result: there is a
lack of comprehensive ADTKD-MUC1
diagnostics
in Europe. The probability that there are still many
undetected ADTKD patients
is therefore high.
Here you can find a report on the congress and details of our survey of European ADTKD experts. The feedback on the hurdles is particularly interesting.
ADTKD-Net: Kick off for European ADTKD registry
In March 2024, scientists, basic researchers and nephrologists as well as a patient representative from 10 European countries met in Berlin at Charité University Hospital to kick off the ADTKD-Net research project. Existing national cohorts will be brought together as part of the established platform of the European Reference Network for Rare Kidney Diseases (ERKNet).
Different disease progression in ADTKD
What impact do gene networks have?
Despite the
same causative mutation, there can be considerabledifferences within a family affected by ADTKD as to when the disease breaks out and how quickly it leads to kidney failure. Scientists have been looking for explanations for this for some time. One possible cause is so-calledmodifying genes.
Report
ERA e-Seminar 2023
Eric Olinger
reports on the latest findings. Topics include the known
subtypes, clinical characteristics, epidemiological data and
diagnostic challenges. These mainly concern
ADTKD-MUC1
and could be overcome in the future by new methods such as
VNtyper. Other focal points are differential diagnosis and
therapeutic approaches
for
UMOD
and
MUC1.
To the video (external page)
ADTKD
is the medical term for a group of genetic kidney diseases
and stands for Autosomal Dominant Tubulointerstitial Kidney Disease. Each of these diseases is caused by a specific gene mutation that causes kidney function to weaken.
Research into an ADTKD therapy is being conducted in many countries. The work is most advanced in the USA. A compound has been identified that can at least delay the disease in ADTKD-MUC1 in laboratory trials. A clinical trial with is planned for 2024.
Die Diagnose The only reliable
ADTKD diagnosis is a
genetic test. This requires a blood sample. Here you can find out when and why such a test can be useful and how exactly it is carried out.
TED Talks 2023
ADTKD-MUC1 as a Model Disease
Anna Greka
researches rare diseases at the Broad Institute. Through hypothesis-driven research, or "molecular detective work" as she calls it, she and her team have been able to identify the cause of the mysterious
kidney disease ADTKD
- and even develop a
promising treatment. In the
TED Talk, she talks about the potential impact of her discovery on other diseases such as ALS and Alzheimer's disease.
More...
HIF-stabilizing agents in ADTKD-MUC1
Anemia drug accelerates disease progression
Anaemia should rather not be treated with
HIF stabilizing
agents
in patients with the disease ADTKD-MUC1
who
do not require dialysis. This is suggested by the results of a
preclinical study
published by researchers at the University of Erlangen.
More...
Genetic testing for the
MUC1
subtype is a
bottleneck
in the diagnosis of ADTKD patients. The problem is that the variant cannot be detected using next generation sequencing (NGS). An overview of
laboratories in Europe that can carry out
MUC1
testing can be found
here.
Here you find video recordings of different
ADTKD webinars held by ERKNet and our US partners, as well as many other links to organisations working on rare kidney diseases.
We as family are affected by ADTKD ourselves. Our goal to provide information for other ADTKD families as well as for nephrologists treating ADTKD patients. We also aim to find other ADTKD patients in Europe.
Events
4.-5. April 2025
4th International ADTKD Summit
Online (in Englisch)
Program and registry:
www.rarekidney.org
Highlights
VISION CURE
A Story of Hope
Two families with a mysterious kidney disease and a researcher whose curiosity is piqued. A
feature in the American STAT magazine describes how the cause of
ADTKD-MUC1 disease was found and how this discovery led to a
potentially effective therapy. The main protagonists are scientist
Anna Greka from the Broad Institute, nephrologist
Anthony Bleyer from Wake Forest University and the
Nelson family.