PMID: 9165480May 1, 1997Paper

Urologic abnormalities in Menkes' kinky hair disease: report of three cases

Journal of Pediatric Surgery
T OshioK Fukuda

Abstract

Menkes' kinky hair disease is a rare congenital disorder of copper metabolism with X-linked recessive inheritance. It is well known that it is frequently associated with urologic abnormalities. The authors experienced three such cases, but each of them was different. Multiple bladder diverticula, right vesico-ureteral reflux, and right hydronephrosis were noted on the first baby boy. In the second case, hematomas in the left kidney, pelvis, ureter and the adipose capsule, which were thought to be the abnormality of vessels, were noted in the neonatal period. In the third body, multiple bladder diverticular were noted at the age of 1 year. One year, 10 months later, a spontaneous rupture at the huge diverticulum occurred.

References

Aug 1, 1977·Radiology·H T HarckeM Valdes-Dapena
Jan 1, 1986·Genetic Epidemiology·N Horn, N E Morton
Mar 1, 1969·Radiology·R L WesenbergG R Barnes

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Citations

Oct 16, 2009·Biological Trace Element Research·Małgorzata LenartowiczJózefa Styrna
Jun 28, 2006·Acta Paediatrica·Marco ZaffanelloGiorgio Zamboni
Mar 16, 2012·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·Riley E AlexanderMuhammad Idrees
Apr 2, 2013·Urology·Max X KongFang-Ming Deng
Aug 29, 2009·Journal of Pediatric Urology·Balgopal Eradi, Ashok Rajimwale
Feb 15, 2013·Wiley Interdisciplinary Reviews. Systems Biology and Medicine·Hila Milo Rasouly, Weining Lu
Oct 19, 2005·Urology·Robert J SteinSteven G Docimo
Jun 5, 2012·Journal of Pediatric Urology·Sarah P Psutka, Marc Cendron
Jan 9, 2019·Journal of Korean Medical Science·Mi Young KimHae Il Cheong
Apr 23, 2003·Journal of Inherited Metabolic Disease·M LenartowiczJ Styrna
Nov 24, 2019·Urology·Katie L CanalichioThomas S Lendvay
May 7, 2009·Archives of Pathology & Laboratory Medicine·Ecaterina F TamasDonna E Hansel

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