KIDNEY/BLADDER

Most recent articles that make mention of kidney/bladder anomalies:

1)Long-term hormone replacement therapy in two patients with Kabuki syndrome and growth hormone deficiency - Minerva Pediatr Jan-Feb;52(1-2) pp. 47-53 2000 Author: : Gabrielli O, Carloni L, Coppa GV, Bedeschi MF, Petroncini MM, Selicorni A

pg.50 - horseshaped kidney and severe stenosis of the pyeloureteric junction

2)Kabuki syndrome - Report of six cases and review of the literature with emphasis on ocular features - Ophthalmic Genetics Mar;21(1) pp. 51-61 2000 Author: Kluijt I, van Dorp DB, Kwee ML, Toutain A, Keppler-Noreuil K, Warburg M, Bitoun P.

case 1 - dysplastic kidneys

case 5 - right kidney placed ectopically behind the bladder

case 6 - one kidney smaller than other

3)Niikawa-Kuroki syndrome - Minerva Pediatr. Jul-Aug;51(7-8) pp. 271-8 1999 Author: Roccella M.

pg 274 - "Other visceral anomalies are occasional horse-shoe shaped kidney..."

4)Lower lip pits and anorectal anomalies in Kabuki children - American Journal of Medical Geneticss 86(3) pp. 282-284 1999 Author: Kokitsu-Nakata NM, et al.

pg 1 - ectopic right kidney and urinary reflux

5)Phenotypic spectrum and management issues in Kabuki syndrome - Journal of Pediatrics 134(4) pp. 480-5 1999 Author: Kawame H, et al.

pg 482 - Urinary Tract Findings - Six patients (33%) had an anomaly involving the urinary tract. Four patients had anomalies of kidney position and ascent: 2 patients had single fused kidneys, 1 had left crossed fused renal ectopia, and 1 had a low-lying right kidney with a medially rotated lower pole. One had ureteropelvic junction obstruction that subsequently required pyeloplasty, and another had duplication of the collecting system.

6)Thirteen cases of Niikawa-Kuroki syndrome: report and review with emphasis on medical complications and preventive management - American Journal of Medical Genetics 79 pp. 112-120 1998 Author: Wilson, G. N.

case 5 - horseshoe kidney

case 10 - bilateral duplication of the urinary collecting system without hydronephrosis

case 11 - bilateral renal duplication

case 12 - shift of right kidney inferolaterally with left-shaped fusion to a transverse, midline left kidney

7)Severe Congenital Anomalies Requiring Transplantation in Children with Kabuki Syndrome" - American Journal of Medical Genetics 80(4) pp.362-367 1998 Author: Ewart-Toland A, et al.

case 1 - right hydronephrosis

case 2 - markedly dysplastic kidneys.....kidney transplant.