vason K Identification of a distinct type IV collagen alpha chain with restricted kidney distribution and assignment of its gene to the locus of X chromosome-linked Alport syndrome. Proc Natl Acad Sei USA

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Congenital urethral valves: findings in 73 children. Objective. To inventory symptoms of children with urethral valves, and their prognosis. Design. Descriptive, Setting. Department of paediatrics and urology, University of Nij megen. Methods. Symptoms were evaluated from clinical data and interviews of the parents of 73 patients. The glomerular filtra­ tion rate (GFR) was calculated from the serum creatinine level by the method of Counahan. Results. Symptoms indicating an urethral obstruction, e.g. diminished urinary jet, were rare (20% of the children). Gen­ eral symptoms prevailed: vomiting, anorexia, growth failure, fever. After 2 years 11 out of 53 children had a GFR < 25 ml/ min/1,73 m2 body surface area. Conclusion. Specific symptoms indicating an urethral ob­ struction are rare. The glomerular filtration is often diminished. There are no measures to prevent loss of renal function. 72 Ned Tijdschr Geneeskd 1995 14 januari;i39(2) L I T E R A T U U R 1 Counahan R, Chantier C, Ghazali S, Kirkwood B, Rose F, Barratt TM. Estimation o f glomerular filtration rate from plasma creatinine concentration in children. Arch Dis Childh 1976;5 1 :875-8 . 2 Heijden AJ van der, Versteegh FG, Wolff ED, s\ikhai RN, Scholtmeijer RJ. Acute tubular dysfunction in infants with obstructive uropathy. Acta Paediatr Scand 1985;74:589-94. 3 Parkliouse HF, B arra tt TM, Dillon M.J, Duffy P G , Fay J, Ransley PG, et al. Long-term outcome of boys with posterior urethral valves. Br J Urol 1988;62:59-62. 4 Groenewegen A A M , Sukhai RN, Nauta J, Scholtmeijer RJ, Nijman RJM. Results of renal transplantation in boys trea ted for posterior urethral valves. J Urol 1993;149:1517-20. 5 Beck AD. The effect of intra-uterine urinary obstruction upon the development of the fetal kidney . J Uroi 1971;105:784-9 . 6 Peters CA, Carr MC, Lais A, Retik AB, Mandell J. T he response of the fetal kidney to obstruction. J Urol 1992;148:503 -9. 7 Stephens FD, Congenital malformations of the urinary tract. New York: Praeger, 1983. 8 Bellinger MF, Comstock CH, Grosso D, Zaino R. Fetal posterior urethral valves and renal dysplasia at 15 weeks gestational age. J Urol 1983;129:1238-9. Aanvaard op 20 juli 1994

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vason K Identification of a distinct type IV collagen alpha chain with restricted kidney distribution and assignment of its gene to the locus of X chromosome-linked Alport syndrome. Proc Natl Acad Sei USA

Congenital urethral valves: findings in 73 children. Objective. To inventory symptoms of children with urethral valves, and their prognosis. Design. Descriptive, Setting. Department of paediatrics and urology, University of Nij megen. Methods. Symptoms were evaluated from clinical data and interviews of the parents of 73 patients. The glomerular filtra­ tion rate (GFR) was calculated from the s...

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X-linked Alport syndrome

X-linked Alport syndrome (AS) is a heritable disorder which is associated with mutations in the type IV collagen oc5(IV) chain gene (COL4A5) located on chromosome X. Following renal transplantation, an average of 6% of male AS patients develop anti-GBM nephritis. We studied the specificity of the antibodies against type IV collagen in the serum of a patient with COL4A5 partial deletion. The spe...

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Can Alport syndrome be treated by gene therapy?

Alport syndrome, also termed hereditary nephritis, was initially described in 1927 by A.C. Alport [1] as an inherited kidney disease characterized by hematuria and sensorineural deafness. Later, ocular lesions were also associated with the syndrome and, with the introduction of the electron microscope, irregularities and disruptions in the glomerular basement membrane (GBM) were shown to be typ...

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Detecting mitochondrial genotypes by temperature gradient gel electrophoresis and heteroduplex analysis.

982 BioTechniques Vol. 23, No. 6 (1997) chromosome 22q. Proc. Natl. Acad. Sci. USA 93:6297-6301. 7.Levy, J. 1994. Sequencing the yeast genome: an international achievement. Yeast 10:16891706. 8.Liu, Y.G. and R.F. Whittier. 1995. Thermal asymmetric interlaced PCR: automatable amplification and sequencing of insert end fragments from P1 and YAC clones for chromosome walking. Genomics 25:674-681. ...

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Comparative distribution of the alpha 1(IV), alpha 5(IV), and alpha 6(IV) collagen chains in normal human adult and fetal tissues and in kidneys from X-linked Alport syndrome patients.

We have shown previously that the 5' ends of the genes for the alpha 5(IV) and alpha 6(IV) collagen chains lie head-to-head on Xq22 and are deleted in patients with Alport syndrome (AS)-associated diffuse leiomyomatosis. In this study, we raised a rabbit anti-human alpha 6(IV)chain antibody, demonstrated its specificity by the analysis of recombinant NC1 domains af all six type IV chains, and s...

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تاریخ انتشار 2017