MEDICAL DICTIONARY
Medullary cystic kidney disease, autosomal recessive type: A childhood genetic kidney disease in which there is progressive symmetrical destruction of the kidneys involving both the tubules and glomeruli , characteristically resulting in anemia , polyuria , polydipsia , isosthenuria (decreased ability to concentrate the urine), progressive renal failure and death in uremia . Hypertension and proteinuria are conspicuous by their absence. The chronic kidney failure affects growth and leads to short stature. The age at death ranges from around 4 to 15 years.
The disease is also called nephronophthisis 1 (NPH1) and familial juvenile nephronophthisis (FJN). It is inherited as an autosomal recessive trait . It was first described by Guido Fanconi and his colleagues in 1951.
The gene for the disease is on chromosome 2 in region 2q13 and is designated NPHP1. It codes for a protein dubbed nephrocystin. About 70% of cases are caused by large deletions in the 2q13 region in both of the child's number 2 chromosomes. The deletions can be readily detected by a molecular genetic test using the PCR (polymerase chain reaction) .
|
DISCLAIMER:
Information on this site is provided for informational
purposes and is not meant to substitute for the advice
provided by your own physician or other medical professional.
You should not use the information contained herein
for diagnosing or treating a health problem or disease,
or prescribing any medication. You should read carefully
all product packaging. Not all Canadian drugs, Canada
prescription and Canadian prescription medicine is available
at discount Canadian on line pharmacies. If you have
or suspect that you have a medical problem, promptly
contact your health care provider. Information and statements
regarding diet supplements have not been evaluated by
Health Canada and are not intended to diagnose, treat,
cure, or prevent any disease. All trade and service
marks mentioned on this site are recognized as belonging
to their respective owners.
|
|
|
|
