Familial nephrotic syndrome: clinical spectrum and linkage to chromosome 19q13.
Familial nephrotic syndrome: clinical spectrum and linkage to chromosome 19q13.
复制标题
家族性肾病综合征：临床谱和与染色体 19q13 的连锁。
DOI：
10.1046/j.1523-1755.2000.057003875.x
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发表时间：
2000
影响因子：
19.6
通讯作者：
Robert E. Ferrell
中科院分区：
文献类型：
--
作者：
A. Vats;Alice Nayak;Demetrius Ellis;Parmjeet S. Randhawa;David N. Finegold;Kara L. Levinson;Robert E. Ferrell
BACKGROUND
Familial nephrotic syndrome (NS) has both autosomal dominant and recessive forms of inheritance. Recent studies in families with an autosomal dominant form of focal segmental glomerulosclerosis (FSGS) have been at odds concerning linkage to chromosome 19q13 (Mathis et al, Kidney Int 53:282-286, 1998; Winn et al, Kidney Int 55:1241-1246, 1999), suggesting genetic heterogeneity. This study examines the clinical features and confirms linkage to chromosome 19q13 in a family with autosomal dominant NS.
METHODS
DNA samples were obtained from 16 of 17 family members. Genomic DNA was isolated, and polymerase chain reaction was performed for five markers spanning the area of interest on chromosome 19q13. Data were evaluated using two- and six-point linkage analysis.
RESULTS
Clinical features included presentation of NS in childhood, steroid unresponsiveness, and slow progression to renal failure. Renal biopsy in affected family members showed lesions ranging from minimal change to mesangial proliferative glomerulonephritis to FSGS. Linkage was confirmed between the disease state and chromosome 19q13, with a maximum logarithm of odds (LOD) score of 2.41. Linkage was observed for a 7 cM region on chromosome 19q13, defined by markers D19S425 and D19S220.
CONCLUSIONS
This study confirms the Mathis et al report of linkage to chromosome 19q13 in a family with autosomal dominant NS. However, there were notable differences in the presenting clinical and histopathologic features of our affected family members compared with those of Mathis et al. This suggests that the gene on chromosome 19q13 may be responsible for considerable phenotypic heterogeneity and variable expression in both clinical presentation and renal histopathology.
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影响因子：
9.8
作者：
Lenkkeri, U;Männikkö, M;Tryggvason, K
通讯作者：
Tryggvason, K
影响因子：
3.5
作者：
Ferrell, RE;Levinson, KL;Finegold, DN
通讯作者：
Finegold, DN
影响因子：
19.6
作者：
M. Winn;Peter J. Conlon;Kelvin L. Lynn;David N. Howell;D. A. Gross;A. Rogala;Anne H. Smith;Felicia L. Graham;M. Bembe;L. D. Quarles;M. Pericak-Vance;Jeffery M. Vance
通讯作者：
M. Winn;Peter J. Conlon;Kelvin L. Lynn;David N. Howell;D. A. Gross;A. Rogala;Anne H. Smith;Felicia L. Graham;M. Bembe;L. D. Quarles;M. Pericak-Vance;Jeffery M. Vance
非芬兰家庭芬兰型先天性肾病综合征的单倍型分析。
DOI：
10.1681/asn.v7122700
发表时间：
1996
期刊：
Journal of the American Society of Nephrology : JASN
影响因子：
--
作者：
Männikkö,M;Lenkkeri,U;Kashtan,CE;Kestilä,M;Holmberg,C;Tryggvason,K
通讯作者：
Tryggvason,K