December 30, 2011
Is it possible child has polycystic kidney but the child father does not carry the disease?
Category: Kidney Disease
they diagnosis for my son, aged 5 years how kidney disease(polycystic) , but my husband did not carry the disease.the mother of the Grandfather carry the disease. So could my child carry the disease or the diagnosis is wrong ?
add info:
I did not have the disease and i do an ultrasound
3 Responses to “Is it possible child has polycystic kidney but the child father does not carry the disease?”
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December 30th, 2011 at 11:19 pm
If the father was not the carrier then that leaves you as the carrier and passed it on to your child.
In 1994, the autosomal recessive polycystic kidney disease gene (PKDHD1) was localized to the short arm of chromosome 6.[6] Fibrocystin/polyductin, a protein encoded by PKDHD1, is expressed on the cilia of renal and bile duct epithelial cells and is thought to be crucial in maintaining the normal tubular architecture of renal tubules and bile ducts. However, the precise function of this protein has yet to be completely studied or understood. The protein strengthens the theory that the primary defect in autosomal recessive polycystic kidney disease is linked to ciliary dysfunction.[7]
Autosomal recessive polycystic kidney disease is characterized by nonobstructive, bilateral, symmetrical dilatation and elongation of 10-90% of the renal collecting ducts, focally accounting for a wide variability of renal dysfunction. As the number of ducts involved increases, the kidneys enlarge. However, at autopsy, the reniform shape is maintained, because the abnormality is in the collecting ducts and the cysts are usually minute (< 3 mm). In older patients, cysts as large as 1 cm may be seen. (See the images below.)
Just because you don’t have the disease does not mean that you are not a carrier, carriers can have recessive traits that don’t manifest and can be passed on to the children. One of the parents must have a recessive gene to pass on to the child, the only rare circumstance where there is no carrier is if the condition is the result of a mutation which happens as a result of evolution and is extremely rare.
December 30th, 2011 at 11:45 pm
My understanding is that the genetics depends on the type of polycystic kidney disease.
‘Autosomal dominant PKD is the most common inherited disorder of the kidneys. The phrase “autosomal dominant” means that if one parent has the disease, there is a 50 percent chance that the disease gene will pass to a child. In some cases-perhaps 10 percent-autosomal dominant PKD occurs spontaneously in patients. In these cases, neither of the parents carries a copy of the disease gene.’
and
‘Autosomal recessive PKD is caused by a mutation in the autosomal recessive PKD gene, called PKHD1. Other genes for the disease might exist but have not yet been discovered by scientists. We all carry two copies of every gene. Parents who do not have PKD can have a child with the disease if both parents carry one copy of the abnormal gene and both pass that gene copy to their baby. The chance of the child having autosomal recessive PKD when both parents carry the abnormal gene is 25 percent. If only one parent carries the abnormal gene, the baby cannot get autosomal recessive PKD but could ultimately pass the abnormal gene to his or her children.’
–http://kidney.niddk.nih.gov/kudiseases/pubs/polycystic/
December 31st, 2011 at 12:02 am
I want to know do you have a family history of PKD? Obviously your husband may have recessive gene of PKD. You said you do not have PKD. According to the pathogeny of PKD, only both of the parents have recessive genes, can the child get PKD. Therefore, to make sure if you have a family history of PKD is important. In order to make a precise diagnosis, your husband, your son and you had better do a DNA analysis for PKD