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Amelogenesis Imperfecta, Nephrocalcinosis

What is Amelogenesis Imperfecta, Nephrocalcinosis?

Amelogenesis Imperfecta, Nephrocalcinosis, is an enamel-renal disorder, where one develops abnormal formation of teeth enamel and also nephrocalcinosis.

 

 

Amelogenesis Imperfecta, Nephrocalcinosis, is an enamel-renal disorder, where one develops abnormal formation of teeth enamel and also nephrocalcinosis.

 

Acknowledgement of Amelogenesis Imperfecta, Nephrocalcinosis has not been added yet.
0.0http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=1339&Disease_Disease_Search_diseaseGroup=Amelogenesis-Imperfecta-Nephrocalcinosis&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Amelogenesis-imperfecta-nephroc
Synonyms for Amelogenesis Imperfecta, Nephrocalcinosis has not been added yet.
Amelogenesis Imperfecta, Nephrocalcinosis, is an autosomal recessive disease caused by a mutation in the AMELX, ENAM, MMP20, and FAM83H genes, which all code for proteins used for enamel formation in tooth development. These mutations prevent the proteins from being produced, and thus, teeth have defective enamel that may be thin, soft, and/or have a yellow or brown colour.
Symptoms of enamel problems include yellow and misshaped teeth and delayed and weakened tooth development. Nephrocalcinosis does not usually have symptoms.
Diagnosis of Amelogenesis Imperfecta, Nephrocalcinosis has not been added yet.
Diagnostic tests of Amelogenesis Imperfecta, Nephrocalcinosis has not been added yet
Treatments of Amelogenesis Imperfecta, Nephrocalcinosis has not been added yet.
Prognosis of Amelogenesis Imperfecta, Nephrocalcinosis has not been added yet.
Tips or Suggestions of Amelogenesis Imperfecta, Nephrocalcinosis has not been added yet.
References of Amelogenesis Imperfecta, Nephrocalcinosis has not been added yet.
FAM20A is cause - Prognosis? Created by MaryAnn
Last updated 28 Aug 2015, 01:19 PM

Posted by MaryAnn
28 Aug 2015, 01:19 PM

Enamel-Renal syndrome is caused by a defect in the gene FAM20A (not the other genes listed on this site). The dental defects include lack of enamel for the teeth, failure of the teeth to erupt, misshapen roots, large pulp chambers, with calcifications in the pulp. The nephrocalcinosis may be asymptomatic until early 20s, but is probably bilateral and visible on ultrasound early on (10 years old?). My daughter has this, but we are still trying to understand whether there could be other associated problems and what the prognosis is for her kidneys, long term. Does anyone else have experience with this?

Flouride Prevents Amelogenesis Imperfecta Created by THECURE
Last updated 25 Jun 2010, 08:12 AM

Posted by THECURE
25 Jun 2010, 08:12 AM

I and my two sisters were born with Amelogenesis imperfecta. Four of our siblings did not have it. My parents did not have it but my aunt did. She gave her kids flouride tablets when they were very young and they all have normal teeth. My sisters that have the disorder gave their kids flouride liquid drops and tablets and their teeth are normal. My two boys and one niece and nephew had amelogenesis imperfecta real bad with their first set of teeth. We had the dentist cover them with composites and gave them flouride liquid drops when they were very young and then switched to the flourde chewable tablets when they were about 3 or 4 years old up until all their permanent teeth came in. Their permanent teeth came in white, strong and normal. If you have it and are having a baby start the treatment as soon as possible, it is hereditary. If your young kids first set has it, start them right away before the permanent set comes out. You have to do the flouride treatment before the teeth are developed and out. Do not listen to nay sayers. Most dentists have little experience with this disease and will not believe in the flouride treatment but it works! It worked for our kids. Spread the message. I wish somebody would of told my parents so that me and my sisters would not have had to go through the trauma. My aunt did not tell my mom until it was too late for us. I pray you listen and try it and share the message.

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My 11 year old daughter has amelogenesis imperfecta, via autosomal recessive inheritance, or just a mutation. Several permanent teeth have failed to reupt, and the ones that have erupted have no...
I was born with amelogenesis imperfecta. So did two of my sisters.
My 2 year old son was diagnosed with AI. I'm looking for information regarding corrective dental work and the success/outcome. We're unsure whether his permanent teeth will also be affected. Any...
i suffer from a rare genetic tooth disease..... it runs in 5 generations of my family that i know of, i am looking for help before my teeth decay into my gums

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Discussion Forum

FAM20A is cause - Prognosis?

Created by MaryAnn | Last updated 28 Aug 2015, 01:19 PM

Flouride Prevents Amelogenesis Imperfecta

Created by THECURE | Last updated 25 Jun 2010, 08:12 AM


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