HealthCareMagic is now Ask A Doctor - 24x7 | https://www.askadoctor24x7.com

Do Congenital Deficiency In Renal Tubular System Cause Recurring Kidney Stones?

Posted on Fri, 10 Jul 2015

Question: My name is XXXXXXX XXXX, my son XXXXXXX has been diagnosed with hypercalciuria, hypocitraturia, and high urinary pH, and goes to a urologist every week for this problem. His urologist says that hereditary factors are the likely cause of this disease, which points a finger a his dad because I have had two sessions with kidney stones, first time in 2003 (72 years old), and currently have a 2 mm stone that I have been trying to pass with the help of Flomax. XXXXXX's BR level is at 5.33, off the chart.

Answered by Dr. Rakesh Madhyastha (9 hours later)

Brief Answer:
need more info

Detailed Answer:
Hello

Thanks for the query

It is quite possible that your son is suffering from a familial condition. However in order to help you I need a few more details

1. What is his renal function ?
2. Was any time 24 hour urine collection of calcium, phosphorus and Uric acid done ?
3. What urological procedure did he undergo ? Could you please find out and let me know ?
4. What is his serum Uric acid and I will also need to know his medications

You have mentioned that it might not be possible to get these things, please get as much information as possible and I would also like to know what all information do you need from me in this matter

Regards

Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar

Follow up: Dr. Rakesh Madhyastha (1 hour later)

I have a copy of XXXX's STONERISK DIAGNOSTIC PROFILE and can give you the results from that. (1) CA 268, (2) OX 17, (3) UA 412, (4) CIT 291, (5) pH 7.2,
(6) TV 2.3, (7) Na 137, (8) SO4 8, (9) P 902, (10) Mg 99, (11) CaOx 0.94, (12) Br 5.33, (13) NaU 0.98, (14) Stru 5.26, (15) UA 0.06, (16) NH4 10, (17) K 43, (18) Creatinine 1389. The other information, renal function, 24 hour urine collection of calcium, phosphorus, and Uric acid, the urological procedures, the serium uric acid, and the medications being taken I can ask my son and will email you back with the information.

Answered by Dr. Rakesh Madhyastha (5 hours later)

Brief Answer:
Not grossly abnormal

Detailed Answer:
Hello

Thanks for getting back

I have seen the reports you have attached, the test results are not grossly abnormal enough to prove that he forms stones because of any congenital deficiency in the tubular system.

Here is what he should do

1. He should take plenty of water, about 5-6 glasses per day
2. Avoid animal meat
3. He should avoid dehydration
4. Avoid alcohol
5. Avoid food items rich in salt like chips, pizza, etc

I hope I was of help, please get back to me with the remaining reports

Regards

Above answer was peer-reviewed by : Dr. Vinay Bhardwaj

Follow up: Dr. Rakesh Madhyastha (7 hours later)

(1) Renal Function: Urinates more but also drinks more water, (2) Fatique: He is always tired. (3) No swelling, (4) No skin changes, (5) No loss of appetite, No chest pain.
(2) A 24 hour urine sample is collected every two months.
(3) Urological Procedures: (a) stones blasted, (b) laser, (c) instrument through the penis to excise stones, (d) ureter scoped several times. These procedures performed by the Oklahoma Surgical Hospital and Saint Francis (Tulsa, OK)
(4) patient doesn't know his level of serum uric acid
(5) Medications: Vitamin C, Potassium Citrate, and hydrochlorothiazide.

Answered by Dr. Rakesh Madhyastha (49 minutes later)

Brief Answer:
Vitamin C

Detailed Answer:
Hello

Thanks for getting back

From the history and the treatment being given it looks like he is a recurrent stone former which they are treating adequately. However I would like to add here that Vit C is known to cause stone, I recommend not be on VIT C. Please enquire with the nephrologist why he is on VIT C before stopping

Regards

Above answer was peer-reviewed by : Dr. Yogesh D

Follow up: Dr. Rakesh Madhyastha (1 hour later)

With the information at hand, can you make a determination of the probable cause of XXXX's kidney stone formation. Even with the meds, XXXXXXX is either having a doctor visit or lab every week. The doctor indicates that this may be a lifetime event and has given the causation as being hereditary. No one in my family has had a problem with kidney stone like XXXXXXX has, I don't feel like that I'm the cause of his problem, even though I've had two events with stones. What may be a recourse so that XXXXXXX can be cured and lead a normal life?
I don't know how the urologist can be positive that the cause is familial.

Answered by Dr. Rakesh Madhyastha (8 hours later)

Brief Answer:
Need not be familial

Detailed Answer:
Hello

I understand you must be upset that you might be the cause for your son's condition.
It is a known fact that patients with renal stones tend to have recurrences. I don't agree with the urologist that it is familial in nature.
It could be 'congenital' in nature where by birth there has been some malfunctioning of the renal tubules causing more stones to form.
There is a difference between congenital and familial where congenital need not be related to the genes of the family.
For example chicken pox during pregnancy can lead to congenital birth defects, this birth defect is not familial

There is little one can do to permanently cure him, he is put on the right medical line of management

Regards

Regards

Above answer was peer-reviewed by : Dr. Prasad

Follow up: Dr. Rakesh Madhyastha (40 minutes later)

Do you feel like XXXXXXX could be possibly relegated to a lifetime of doctors visits and lab tests? Are there specialists that he could see any where in the USA? Right now he is carrying a very big burden personally as well as with his job and family.

Answered by Dr. Rakesh Madhyastha (15 hours later)

Brief Answer:
Follow up

Detailed Answer:
Hello

I am not sure about specialists in USA but Nephrologists deal with stone diseases worldwide. You can approach a general nephrologist for this.

But he will have to be on lifetime follow up

Regards

Note: For further queries related to kidney problems and comprehensive renal care, talk to a Nephrologist. Click here to Book a Consultation.

Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar