i have 4-month old girl patient with polycystic kidney disease.w/o genetic studies, how do i know w/c type?Both parents deny any family history of kidney problems.Patient is assymptomatic except for one episode of high grade fever which prompted me to do a urinalysis and eventually, a culture and sensitivity test due to persistent pyuria. Prognosis? my inability to confirm which type of PKD she has, the prognosis is not known.
Posted by daniella
three different kinds of PKD:
Autosomal dominant PKD is the most common inherited form. Symptoms usually develop between the ages of 30 and 40, but they can begin earlier, even in childhood. About 90 percent of all PKD cases are autosomal dominant PKD.
Autosomal recessive PKD is a rare inherited form. Symptoms of autosomal recessive PKD begin in the earliest months of life, even in the womb.
Acquired cystic kidney disease (ACKD) develops in association with long-term kidney problems, especially in patients who have kidney failure and who have been on dialysis for a long time. Therefore it tends to occur in later years of life. It is not an inherited form of PKD.
How did you rule out that she has PKD. Have you done an ultrasound to confirm that the baby has PKD? I am just wondering. You should do a genetic study on the parents if you want to confirm your diagnosis. Parents who do not have PKD 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 disease.
You can also trace the patients parents parents and grandparents. surely, they will know if their parents or grandparents died of kidney disease. It's all a matter of good assessment and history taking that you can come up with a concrete diagnosis.
Posted by rankenory
In addition to any information you get here, I suggest you try one of the medical forums or question board links I pasted below, where medical practitioners will answer and may offer deeper insight than you'll get here.
I also suggest you go to the NIH and PKD Foundation links I pasted for specific information about PKD.
I have ADPKD, and I can tell you that the fact that the parents are unaware of family history of PKD does not exclude PKD in general or either type in particular. For instance ADPKD can originate as a spontaneous gene mutation, as it did in my case, where there is no family history. In ARPKD, the gene is recessive, and thus the parents can be carriers of the disease and not have it themselves. It is possible that the gene was carried for many generations with no symptoms, because it is only when both parents have the gene that the gene can be passed on in its expressive form (when the child will have the disease rather than just carry the gene). ARPKD is passed on 25% of the time in each pregnancy when both parents are silent carriers of the mutated gene, and the child must receive a mutated gene from each parent for disease expression (p3, http://www.arpkdchf.org/documents/What%20is%20ARPKDCHF_DETAILED.pdf).
As for ADPKD, I can tell you from personal experience that I did not know I had the disease until I had kidney stones at age 40. Most people with ADPKD are pretty much asymptomatic until around that age. If this 4-month old patient is already having problems she could very well have ARPKD, commonly referred to as "infantile PKD" because of the early onset of symptoms. ARPKD has a much worse prognosis, as you probably already know.
Also, you seem to have assumed that the patient has PKD due to a culture and sensitivity test, but don't indicate whether you've done an ultrasound showing the actual cysts. Are you really even sure this is PKD at all? If so, an enlarged abdomen, hypertension, and enlarged kidneys could indicate ARPKD (http://en.wikibooks.org/wiki/Handbook_of_Genetic_Counseling/Polycystic_Kidney_Disease#ARPKD for further symptom and diagnostic clues). ADPKD would typically be asymptomatic at that age. Recommend to the parents that the child gets tested genetically to find out for sure which kind it is. The baby can have a genetic test to detect mutations in the PKD1 and PKD2 genes (http://kidney.niddk.nih.gov/kudiseases/pubs/polycystic/), which will indicate if the disease is ADPKD. A genetic test for the presence of a mutation in the PKHD1 genes can confirm that the problem is ARPKD (http://www.unckidneycenter.org/patients/arpkd.htm).
Regarding the post above mine by the renal nurse, the figures she refers to as being the inheritance probabilities for PKD actual refer only to inheriting ARPKD. I excluded references to ACKD in my post because it obviously does not apply to your 4-month old patient.
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