Literature DB >> 9165480

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

T Oshio1, M Hino, A Kirino, C Matsumura, K 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.

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Year:  1997        PMID: 9165480     DOI: 10.1016/s0022-3468(97)90035-x

Source DB:  PubMed          Journal:  J Pediatr Surg        ISSN: 0022-3468            Impact factor:   2.545


  6 in total

1.  Pathological structure of the kidney from adult mice with mosaic mutation.

Authors:  M Lenartowicz; M Kowal; D Buda-Lewandowska; J Styrna
Journal:  J Inherit Metab Dis       Date:  2002-12       Impact factor: 4.982

2.  Diagnosis and management of congenital bladder diverticulum in infancy and childhood: experience with nine cases at a tertiary health center in a developing country.

Authors:  Jiledar Rawat; Kumar Abdul Rashid; Ravi P Kanojia; Shiv N Kureel; Raj K Tandon
Journal:  Int Urol Nephrol       Date:  2008-08-15       Impact factor: 2.370

Review 3.  Lower urinary tract development and disease.

Authors:  Hila Milo Rasouly; Weining Lu
Journal:  Wiley Interdiscip Rev Syst Biol Med       Date:  2013-02-13

4.  Prenatal treatment of mosaic mice (Atp7a mo-ms) mouse model for Menkes disease, with copper combined by dimethyldithiocarbamate (DMDTC).

Authors:  Małgorzata Lenartowicz; Wojciech Krzeptowski; Paweł Koteja; Katarzyna Chrząścik; Lisbeth Birk Møller
Journal:  PLoS One       Date:  2012-07-18       Impact factor: 3.240

5.  Urological Problems in Patients with Menkes Disease.

Authors:  Mi Young Kim; Ji Hyun Kim; Myung Hyun Cho; Young Hun Choi; Seong Heon Kim; Young Jae Im; Kwanjin Park; Hee Gyung Kang; Jong-Hee Chae; Hae Il Cheong
Journal:  J Korean Med Sci       Date:  2018-12-26       Impact factor: 5.354

6.  Decreased Expression of the Slc31a1 Gene and Cytoplasmic Relocalization of Membrane CTR1 Protein in Renal Epithelial Cells: A Potent Protective Mechanism against Copper Nephrotoxicity in a Mouse Model of Menkes Disease.

Authors:  Olga Haberkiewicz; Paweł Lipiński; Rafał R Starzyński; Aneta Jończy; Patrycja Kurowska; Mateusz Ogórek; Aleksandra Bednarz; Sylwia Herman; Dawid Hatala; Paweł Grzmil; Zenon Rajfur; Zbigniew Baster; Małgorzata Lenartowicz
Journal:  Int J Mol Sci       Date:  2022-09-28       Impact factor: 6.208

  6 in total

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