home
***
CD-ROM
|
disk
|
FTP
|
other
***
search
/
CD-ROM Today 1996 January
/
CD-ROM Today 1996 January.iso
/
dp
/
0384
/
03844.txt
< prev
next >
Wrap
Text File
|
1994-01-17
|
6KB
|
162 lines
$Unique_ID{BRK03844}
$Pretitle{}
$Title{Hyperoxaluria, Primary (Type I)}
$Subject{Hyperoxaluria, Primary (Type I) Glycolic Aciduria PH Type I Oxalosis
Cystinuria}
$Volume{}
$Log{}
Copyright (C) 1987, 1988, 1989 National Organization for Rare Disorders,
Inc.
470:
Hyperoxaluria, Primary (Type I)
** IMPORTANT **
It is possible the main title of the article (Primary Hyperoxaluria (Type
I)) is not the name you expected. Please check the SYNONYMS listing on the
next page to find alternate names, disorder subdivisions, and related
disorders covered by this article.
Synonyms
Glycolic Aciduria
PH Type I
Oxalosis
Information on the following disorder can be found in the Related
Disorders section of this report:
Cystinuria
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for
educational purposes only. It should not be used for diagnostic or treatment
purposes. If you wish to obtain more information about this disorder, please
contact your personal physician and/or the agencies listed in the "Resources"
section of this report.
Primary Hyperoxaluria (Type I) is a hereditary disorder characterized by
an inborn error of glyoxylic acid metabolism. Excessive formation of oxalic
acid occurs in the liver, spleen, and kidneys, resulting in excessive levels
of the acid in the urine. Calcium oxalate does not dissolve and consequently
"stones" are formed in the urinary tract.
Symptoms
Symptoms of Primary Hyperoxaluria (Type I) usually begin between 2 and 10
years of age, but can begin during infancy. The disorder is characterized by
a burning sensation in the mouth, nausea, vomiting and abdominal pain. Pain
in the kidney (renal colic) and passage of stones from the kidney also occur.
Infection of the urinary tract is common. Calcium oxalate levels in the
urine are increased. Occasionally, uric acid in the blood (uricemia) may
also occur. In rare cases, an irregular heart beat may develop.
Causes
Primary Hyperoxaluria (Type I) is a hereditary disorder transmitted by
autosomal recessive genes. An inborn error of glyoxylic acid metabolism
causes an excess of oxalic acid in the urine, leading to formation of calcium
oxalate stones in the kidney. (Human traits including the classic genetic
diseases, are the product of the interaction of two genes for that condition,
one received from the father and one from the mother. In recessive
disorders, the condition does not appear unless a person inherits the same
defective gene from each parent. If one receives one normal gene and one
gene for the disease, the person will be a carrier for the disease, but
usually will show no symptoms. The risk of transmitting the disease to the
children of a couple, both of whom are carriers for a recessive disorder, is
twenty-five percent. Fifty percent of their children will be carriers, but
healthy as described above. Twenty-five percent of their children will
receive both normal genes, one from each parent and will be genetically
normal.)
Affected Population
Primary Hyperoxaluria (Type I) affects males and females in equal numbers.
It is a rare disorder.
Related Disorders
Cystinuria is an inherited defect in the intestinal and kidney metabolism of
the amino acid cystine. This causes excessive urinary excretion of this
amino acid leading to the formation of "stones" in the urinary tract.
Infections may also occur. Symptoms include blood in the urine and
excruciating pain in the patient's side or back. (For more information on
this disorder, choose "cystinuria" as your search term in the Rare Disease
Database.)
Therapies: Standard
A minority of patients with Primary Hyperoxaluria (Type I) may be helped by
large doses of pyridoxine (vitamin B6). Avoiding foods high in oxalic acid
such as spinach and rhubarb may also be helpful. Plenty of liquid should be
consumed to dilute the urine, thus minimizing the risk of formation of
calcium oxalate stones. Small kidney stones may be passed in the urine
spontaneously. Others may be broken up by shock wave fragmentation
(lithotripsy), although large stones may require surgery. If kidney function
deteriorates beyond a certain level, hemodialysis and/or kidney
transplantation may be considered. Unfortunately, these measures are often
less successful in treating this disorder than other types of kidney disease.
Genetic counseling may be helpful to families of Primary Hyperoxaluria
(Type I) patients.
Therapies: Investigational
Combined liver and kidney transplants have been performed experimentally on
Primary Hyperoxaluria (Type I) patients. However, more research is necessary
to determine long-term effectiveness and safety of this procedure.
This disease entry is based upon medical information available through
June 1989. Since NORD's resources are limited, it is not possible to keep
every entry in the Rare Disease Database completely current and accurate.
Please check with the agencies listed in the Resources section for the most
current information about this disorder.
Resources
For more information on Primary Hyperoxaluria (Type I), please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
The Oxalosis and Hyperoxaluria Foundation
24815-144th Place, S.E.
Kent, WA 98042
(206) 631-0386
National Digestive Diseases Information Clearinghouse
Box NDDIC
Bethesda, MD 20892
(301) 468-6344
Research Trust for Metabolic Diseases in Children
Golden Gates Lodge, Weston Rd.
Crewe CW1 1XN, England
Telephone: (0270) 250244
For information on genetics and genetic counseling referrals, please
contact:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
THE METABOLIC BASIS OF INHERITED DISEASE, 5th ed.: John B. Stanbury, et
al, eds.; McGraw-Hill, 1983. Pp. 204-228.