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Medullary Cystic Kidney Disease

What is Medullary Cystic Kidney Disease?

Medullary Cystic Kidney Disease is a rare kidney disorder.

 

Medullary Cystic Kidney Disease is a rare kidney disorder.
Acknowledgement of Medullary Cystic Kidney Disease has not been added yet.
0.11http://www.orpha.net
Synonyms for Medullary Cystic Kidney Disease has not been added yet.
MCKD1 is caused by a mutation in the MUC1 gene. All families that have been studied have the same MUC1 mutation. MUC1 makes the protein Mucin-1, which helps make mucus. Mucin-1 is found all over the body, especially in the lung, breast, stomach, salivary gland and kidney. However, in MCKD1, the mutation only causes problems in the kidney. MCKD2 is caused by a mutation in the UMOD gene. So far, over 50 mutations have been found in the UMOD gene. UMOD makes the protein Uromodulin, or “Tamm-Horsfall Protein”, which is the most abundant protein in human urine. In both MCKD1 and MCKD2 the mutated proteins that are made build up inside of the kidney cells instead of being secreted like normal Mucin-1 or Uromodulin.
MCKD1: family history of kidney disease; slowly increasing blood creatinine levels; may develop kidney failure over time; little protein and no blood in the urine. MCDK2: family history of kidney disease; gout in early teens or 20’s; slowly increasing blood creatinine levels; may develop kidney failure over time; little protein and no blood in the urine. In both MCKD1 and MCKD2 cysts are RARELY seen.
MCKD1 and MCKD2 are only diagnosed by genetic tests that require blood samples.
Diagnostic tests of Medullary Cystic Kidney Disease has not been added yet
Currently, there is not a specific treatment for MCKD1 or MCKD2. Most individuals with MCKD1 and MCKD2 will have slowly progressive kidney failure and will eventually need dialysis or a transplant. Gout caused by MCKD2 can be treated with Allopurinol or other drugs used to decrease uric acid levels.
Individuals with MCKD1 often feel very well and normal with this condition until they have lost a significant amount of kidney function. MCKD1 and MCKD2 are cured with a kidney transplant. The transplanted kidney is normal and does not make the abnormal protein. Therefore, the disease will not develop in it.
Name Description
Nephrologist (Kidney Doctor) See a kidney doctor to help you to manage signs and symptoms of kidney disease and also help to get you ready for a kidney transplant if needed.
Diet When kidney disease is mild, eat the same heart-healthy diet that is recommended for the general population.
Stay in shape and keep weigh under control. Being very overweight can make future transplant surgery difficult.
Check your blood pressure regularly. As kidney disease worsens, blood pressure can increase, leading to increased risk of heart disease, stroke and heart attack. If your blood pressure is high, you should get it treated.
Do not smoke. Smoking makes all kidney disease worse. It also causes hardening of the arteries and lung disease.
References of Medullary Cystic Kidney Disease has not been added yet.
Medullary Cystic Kidney Disease Created by WakeIKD
Last updated 26 Sep 2013, 04:29 PM

Posted by ajhosking
26 Sep 2013, 04:28 PM

I’m Andrew Hosking, the Founder and President of the UKD Foundation (ukdcure.org). We have established a foundation to “Promote research and education programs to discover effective treatments and a cure for Uromodulin Kidney Disease (UKD) and support affected families worldwide.” Before the cause of UKD was well understood, medical practitioners named the disease based on it's symptoms. Unfortunately, the symptoms vary across patients, and this has resulted in many names being used to describe this disease. We use Uromodulin Kidney Disease (UKD) to unify all names, which include: - Familial gout-kidney disease - Familial gouty nephropathy - Familial Juvenile Hyperuricemic Nephropathy Type 1 (FJHN1 & FJHN) - Familial Uromodulin Associated Nephropathy (FUAN) - Hyperuricemic Nephropathy - Medullary Cystic Kidney Disease Type 2 (MCKD2) - UMOD-Associated Kidney Disease (UAKD & UMAK) - UMOD-related kidney disease - Uromodulin Associated Kidney Disease (UAKD & UMAK) - Uromodulin storage disease Please check us out at http://ukdcure.org Andrew

Posted by WakeIKD
18 Jun 2013, 06:25 PM

Hello Medullary Cystic Kidney Disease Community, I am the member of a research team headed by Dr. Anthony Bleyer that studies Medullary Cystic Kidney Disease (MCKD). We are located in Winston-Salem, NC as part of Wake Forest School of Medicine. If you would like to contact us with any questions about MCKD, please reply below or email us at kidney@wakehealth.edu We will answer promptly. Thank you, Kendrah Kidd Wake Forest Inherited Kidney Disease Research Team

Community External News Link
Title Date Link
Community Resources
Title Description Date Link
MCKD2

Information about MCKD2 and research.

03/20/2017
MCKD1

Informational website about MCKD1 created by the Wake Forest Inherited Kidney Disease team: symptoms, treatment, family matters, genetics, and research

03/20/2017
UKD Foundation

The UKD Foundation, Inc. is a non-profit corporation, dedicated to our mission of:

 

 

Promote research and education programs to discover effective treatments and a cure for Uromodulin Kidney Disease (UKD) and support affected families worldwide.

 

 

Before the cause of UKD was well understood, medical practitioners named the disease based on the symptoms of the disease. Unfortunately, the symptoms vary across patients, and this has resulted in many names being used to describe this disease. We use Uromodulin Kidney Disease (UKD) to unify all these names, which include:

 

 

Familial gout-kidney disease

 

Familial gouty nephropathy

 

Familial Juvenile Hyperuricemic Nephropathy Type 1 (FJHN1 & FJHN)

 

Familial Uromodulin Associated Nephropathy (FUAN)

 

Hyperuricemic Nephropathy

 

Medullary Cystic Kidney Disease Type 2 (MCKD2)

 

UMOD-Associated Kidney Disease (UAKD & UMAK)

 

UMOD-related kidney disease

 

Uromodulin Associated Kidney Disease (UAKD & UMAK)

 

Uromodulin storage disease

 

03/20/2017

Clinical Trials


Cords registry

CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.

Enrolling is easy.

  1. Complete the screening form.
  2. Review the informed consent.
  3. Answer the permission and data sharing questions.

After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.

Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.

Visit sanfordresearch.org/CoRDS to enroll.

Community Leaders

ableyer

I am a clinical investigator and have been a member of the teams that found the genetic causes of MCKD1 (MUC1 gene mutation), MCKD2 (UMOD gene mutation) and REN gene mutations.

 

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Medullary Cystic Kidney Disease

Created by WakeIKD | Last updated 26 Sep 2013, 04:29 PM


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