Autosomal recessive PKD
is caused by a particular genetic
flaw that is different from the genetic flaw that causes autosomal
dominant PKD. Parents who do not have the disease can have a child
with the disease if both parents carry the abnormal gene and both
pass the gene to their baby. The chance of this happening (when
both parents carry the abnormal gene) is one in four. If only one
parent carries the abnormal gene, the baby cannot get the
The symptoms of autosomal recessive PKD can begin before birth,
so it is often called "infantile PKD." Children born with autosomal
recessive PKD usually develop kidney failure within a few years.
Severity of the disease varies. Babies with the worst cases die
hours or days after birth. Children with an infantile version may
have sufficient renal function for normal activities for a few
years. People with the juvenile version may live into their teens
and twenties and usually will have liver problems as well.
Children with autosomal recessive PKD experience high blood
pressure, urinary tract infections, and frequent urination. The
disease usually affects the liver, spleen, and pancreas, resulting
in low blood-cell counts, varicose veins, and hemorrhoids. Because
kidney function is crucial for early physical development, children
with autosomal recessive PKD are usually smaller than average
Ultrasound imaging of the fetus or newborn baby reveals cysts in
the kidneys but does not distinguish between the cysts of
auto-somal recessive and autosomal dominant PKD. Ultrasound
examination of kidneys of relatives can be helpful; for example, a
parent or grandparent with autosomal dominant PKD cysts could help
confirm diagnosis of autosomal dominant PKD in a fetus or child.
(It is extremely rare, although not impossible, for a person with
autosomal recessive PKD to become a parent.) Because autosomal
recessive PKD tends to scar the liver, ultrasound imaging of the
liver also aids in diagnosis.
Medicines can control high blood pressure in autosomal recessive
PKD, and antibiotics can control urinary tract infections. Eating
increased amounts of nutritious food improves growth in children
with autosomal recessive PKD. In some cases, growth hormones are
used. In response to kidney failure, autosomal recessive PKD
patients must receive dialysis or transplantation.
Genes are segments of DNA, the long molecules that reside in the
nuclei of your body's cells. The genes, through complex processes,
cause chemical activities that lead to growth and maintenance of
the body. At conception, DNA (and therefore genes) from both
parents are passed to the child.
A genetic disease occurs when one or both parents pass abnormal
genes to a child at conception. If receiving an abnormal gene from
just one parent is enough to produce a disease in the child, the
disease is said to have dominant inheritance. If receiving abnormal
genes from both parents is needed to produce disease in the child,
the disease is said to be recessive.
The chance of acquiring a dominant disease (one gene copy is
enough) is higher than the chance of acquiring a recessive disease
(two gene copies are needed). A child who receives only one gene
copy for a recessive disease at conception will not develop the
genetic disease (such as autosomal recessive PKD), but could pass
the gene to the following generation.
Please be aware that this information is provided to supplement the care
provided by your physician. It is neither intended nor implied to be a
substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER
IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the
advice of your physician or other qualified health provider prior to
starting any new treatment or with any questions you may have regarding a
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