|Medical Terms||Other Names||
|30%-79% of people have these symptoms|
Bloating[ more ]
|Abnormal renal physiology||
Abnormal kidney function
Kidney function issue[ more ]
Depleted blood volume
Too much calcium deposited in kidneys
Skin itching[ more ]
|Percent of people who have these symptoms is not available through HPO|
|Death in infancy||
Lethal in infancy[ more ]
Retarded growth[ more ]
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
The differential diagnosis includes rare congenital enteropathies such as autoimmune enteropathy, chloride diarrhea, congenital sodium diarrhea, and congenital tufting enteropathy.
Visit the Orphanet disease page for more information.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
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I have a good friend who has a 15 year-old son. The boy suffers from microvillus inclusion disease. They live in Russia. Local doctors have told her that there is no treatment for that rare disease, but we suppose that Western medicine is more developed and there is a solution. How might this condition be treated? See answer