Dear Dr. Kim

Last newsletter we featured a question on toileting in “Dear Dr. Kim”. We had a number of parents respond, and report that they would like this topic continued and expanded so that parents or doctors might consider possible involvement of structural features of the renal system. Turning to a 1999 research paper on “Genitourninary anomalies in CHARGE association”. (Ragan DC; Casale AJ; Rink, RC; Cain MP, Weaver DD; (1999). In J Urol 1999 FEB 161 (2): 622 – 5), we found that the incidence and types of genital and urinary anomalies were found to be diverse, and a plan was suggested for evaluating the urinary system in CHARGE.

In this study where 32 patients who had CHARGE were examined, 69% had abnormalities which showed structural “underdevelopment” or genital anomalies (both in male and female anatomy). Renal ultrasound found 42% had urinary tract anomalies which included solitary kidney, (or one kidney instead of two); hydronephrosis (a “stretching or dilation of the inside or collecting part of the kidney); http://www.duj.com/hydronephrosis.html

renal hypoplasia (small kidneys); and duplex kidney’s (part or all of each kidney is duplicated). Further evaluation found vesicoureteral reflux, (where some urine goes back up into the ureters and possibly the kidneys); http://www.pedisurg.com/PtEduc/Vesicoureteral_Reflux.htm ;

neurogenic bladder (the muscles and the nerves of the urinary system don't work together to hold urine in the bladder and then release it at the appropriate time). http://www.umm.edu/urology-info/neurblad.htm

This finding was secondary to spinal dysraphism, (incomplete raphe closure which allows a neural herniation). http://www.fpnotebook.com/NIC61.htm Also found was nephrolithiasis, (or a formation of crystal aggregates in the urinary tract that results in kidney stones); ureteropelvic junction obstruction ( an obstruction of the flow of uring from the renal pelvis to the proximal ureter.)

This study recommended genitourinary evaluation which includes renal and bladder ultrasound and “voiding cystourethrography screening”.

We “recommend getting a VCUG test - a voiding cystourethrogram, where they insert a catheter and watch to see if there is any bladder to kidney reflux”
“get a VCUG test done while the under sedation for other things”
“my child had no symptoms and the kidney ultrasound was fine, but he showed a grade 4 bladder reflux with the VCUG test”
“the doctor was not receptive to doing a VCUG test because there were no symptoms and I had to fight to get the test done”
“my son had a fever fluctuating from 101 – 103 he ended up in hospital for 5 days – all tests came back negative; finally a culture test showed up some kind of growth; there are levels of reflux 1 – 4 and he had a 2 so we have to keep an eye out in the future in case there is another infection”
“not all children with bladder reflux will end up with urinary track infection but I use cranberry juice to keep bacteria from adhering *(this was medically confirmed in a 1994 study at Harvard)
“if there is bladder reflux, the infection may or not be there, but one single negative or even a multiple point culture does not conclusively answer the question”

Dr. Kim Blake agrees with the parents that u/s and VCUG are important and necessary parts of the management of the workup for their children. "This edition of "Dear Dr. Kim" could be taken to any consultant and used as a reference". However, Dr. Blake also says, "The cranberry juice data is still limited, but I am always open to complementary management."

*Dr. Kim Blake is an Associate Professor of Pediatrics and Associate Dean of Undergraduate studies at Dalhousie University; is a founding member of CHARGE Syndrome Canada, who presently sits on the CHARGE Syndrome Canada Professional Advisory Board as Chair

	CHARGE Syndrome Canada Newsletter Summer 2006 Vol. 1 No.11

Behaviour Research Studies Need Participation Organizations dedicated to technology Make a Wish technology update "Dear Dr .Kim" A tribute Past edition of the Newsletter Back to Newsletter front page	"Dear Dr. Kim" More on toileting and urinary track issues Last newsletter we featured a question on toileting in “Dear Dr. Kim”. We had a number of parents respond, and report that they would like this topic continued and expanded so that parents or doctors might consider possible involvement of structural features of the renal system. Turning to a 1999 research paper on “Genitourninary anomalies in CHARGE association”. (Ragan DC; Casale AJ; Rink, RC; Cain MP, Weaver DD; (1999). In J Urol 1999 FEB 161 (2): 622 – 5), we found that the incidence and types of genital and urinary anomalies were found to be diverse, and a plan was suggested for evaluating the urinary system in CHARGE. In this study where 32 patients who had CHARGE were examined, 69% had abnormalities which showed structural “underdevelopment” or genital anomalies (both in male and female anatomy). Renal ultrasound found 42% had urinary tract anomalies which included solitary kidney, (or one kidney instead of two); hydronephrosis (a “stretching or dilation of the inside or collecting part of the kidney); http://www.duj.com/hydronephrosis.html renal hypoplasia (small kidneys); and duplex kidney’s (part or all of each kidney is duplicated). Further evaluation found vesicoureteral reflux, (where some urine goes back up into the ureters and possibly the kidneys); http://www.pedisurg.com/PtEduc/Vesicoureteral_Reflux.htm ; neurogenic bladder (the muscles and the nerves of the urinary system don't work together to hold urine in the bladder and then release it at the appropriate time). http://www.umm.edu/urology-info/neurblad.htm This finding was secondary to spinal dysraphism, (incomplete raphe closure which allows a neural herniation). http://www.fpnotebook.com/NIC61.htm Also found was nephrolithiasis, (or a formation of crystal aggregates in the urinary tract that results in kidney stones); ureteropelvic junction obstruction ( an obstruction of the flow of uring from the renal pelvis to the proximal ureter.) This study recommended genitourinary evaluation which includes renal and bladder ultrasound and “voiding cystourethrography screening”. Now, some parent comments: We “recommend getting a VCUG test - a voiding cystourethrogram, where they insert a catheter and watch to see if there is any bladder to kidney reflux” “get a VCUG test done while the under sedation for other things” “my child had no symptoms and the kidney ultrasound was fine, but he showed a grade 4 bladder reflux with the VCUG test” “the doctor was not receptive to doing a VCUG test because there were no symptoms and I had to fight to get the test done” “my son had a fever fluctuating from 101 – 103 he ended up in hospital for 5 days – all tests came back negative; finally a culture test showed up some kind of growth; there are levels of reflux 1 – 4 and he had a 2 so we have to keep an eye out in the future in case there is another infection” “not all children with bladder reflux will end up with urinary track infection but I use cranberry juice to keep bacteria from adhering (this was medically confirmed in a 1994 study at Harvard) “if there is bladder reflux, the infection may or not be there, but one single negative or even a multiple point culture does not conclusively answer the question” Dr. Kim Blake agrees with the parents that u/s and VCUG are important and necessary parts of the management of the workup for their children. "This edition of "Dear Dr. Kim" could be taken to any consultant and used as a reference". However, Dr. Blake also says, "The cranberry juice data is still limited, but I am always open to complementary management." Dr. Kim Blake is an Associate Professor of Pediatrics and Associate Dean of Undergraduate studies at Dalhousie University; is a founding member of CHARGE Syndrome Canada, who presently sits on the CHARGE Syndrome Canada Professional Advisory Board as Chair



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