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If I Have the PKD Gene, Will it Definitely Develop

2012-11-17 10:03

We have learned that Polycystic Kidney Disease(PKD) is a genetic kidney disorder, however, how the disease is inherited is not understood by many affected people. There are two types of PKD, that is, Autosomal Dominant Polycystic Kidney Disease (PKD) and Autosomal Recessive Polycystic Kidney Disease (ARPKD). If one have the mutated PKD gene, some further things should be made clear to make sure whether PKD can definitely develop in his later life.

First we will need to have some basic knowledge about inheritance. As we know, human beings have 23 pairs of chromosomes, and one chromosome of the pair comes from the mother while the other is from the father. The chromosomes are made of gene pairs containing deoxyribonucleic acids (DNA). A dominant gene means that disease trait appears when only one of the gene pair is mutated, while a recessive gene means that the disease trait appears only when both genes of the pair carry the mutation. Only one mutated PKD gene is required for the form of Autosomal Dominant Polycystic Kidney Disease (ADPKD) to occur. 85% mutations in ADPKD occur in chromosome 16(PKD 1), and 15% mutations in ADPKD occur in chromosome 4(PKD2). Every child who carries one mutated gene in either the chromosome 16 pair or the chromosome 4 pair can be diagnosed as ADPKD. Although people don’t have any symptoms in childhood, cysts in kidneys can get gradually enlarged from their 30s and cause loss of kidney functions.

Autosomal Recessive Polycystic Kidney Disease (ARPKD), as opposed to ADPKD, is a rare form of kidney disorder. It results from a mutation in chromosome 6 (PKHD) gene. Both genes of the pair must carry the mutation for the disease to occur. That means, each parent has only one mutated gene in chromosome 6(carriers), and for this reason, there is no family history of the disease. Each conception carries a 25% chance of the child inheriting both mutated genes and having ARPKD. Compared to ADPKD, ARPKD is a much more dangerous form because death many occur in first months to years in the children affected.

If one has the PKD gene, it is important to know where the mutated gene is located, whether it is in chromosome 16(PKD 1), chromosome 4(PKD 2 gene) or chromosome 6(PKHD). Those who have one mutated PKD 1 or PKD 2 gene develop ADPKD and may experience reduction of renal functions from their middle ages. ARPKD doesn’t occur if one has only one mutated PKHD gene. If you find the difficulty making it clear, you may need to consult an expert doctor about it.


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