Masked crystalline light chain tubulopathy and podocytopathy with focal segmental glomerulosclerosis: a rare MGRS‐associated renal lesion

Focal Segmental Glomerulosclerosis in a Patient Associated with Kappa-Light Chain Disease

Turkish Nephrology Dialysis Transplantation ◽

10.5262/tndt.2011.1001.17 ◽

2011 ◽

Vol 20 (01) ◽

pp. 96-98 ◽

Cited By ~ 2

Author(s):

Dilek Torun ◽

Tuba Canpolat ◽

Ruya Ozelsancak

Keyword(s):

Focal Segmental Glomerulosclerosis ◽

Light Chain ◽

Kappa Light Chain ◽

Segmental Glomerulosclerosis ◽

Light Chain Disease

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A Locus for Adolescent and Adult Onset Familial Focal Segmental Glomerulosclerosis on Chromosome 1q25-31

Journal of the American Society of Nephrology ◽

10.1681/asn.v1191674 ◽

2000 ◽

Vol 11 (9) ◽

pp. 1674-1680 ◽

Cited By ~ 1

Author(s):

HIROYASU TSUKAGUCHI ◽

HENRY YAGER ◽

JOHN DAWBORN ◽

LUIS JOST ◽

JERRY COHLMIA ◽

...

Keyword(s):

Focal Segmental Glomerulosclerosis ◽

Haplotype Analysis ◽

Large Family ◽

Renal Lesion ◽

Childhood Onset ◽

Lod Score ◽

Segmental Glomerulosclerosis ◽

Recessive Form ◽

Secondary Form ◽

Familial Patterns

Abstract. Focal segmental glomerulosclerosis is a nonspecific renal lesion observed both as a primary (idiopathic) entity and in a secondary form, typically in association with reduced functional renal mass. Familial forms have been observed and two loci for autosomal dominant FSGS have been mapped. This study shows that an adolescent/adult form of recessive FSGS maps to a locus on chromosome 1q25-31, which overlaps with a region previously identified as harboring a locus for an early childhood onset recessive form of nephrotic syndrome (SRN1). Evaluation of a large family demonstrated linkage with a maximum two-point lod score of 3.98 at D1S254 and D1S222. Lod score calculations support the conclusion of linkage in four of five additional families. Haplotype analysis suggests that this FSGS gene is located in a 19-cM region flanked by D1S416 and D1S413, of which 6 cM overlaps with SRN1, suggesting that these distinct clinical subsets of kidney disease may be allelic. These regions may also overlap with the syntenic region of the glomerulosclerosis susceptibility locus in the BUF/Mna rat. Because the presentation of FSGS may be subtle, inherited FSGS may be much more common than generally realized and grossly underestimated because of the absence of clear familial patterns. This result increases the suspicion that polymorphisms at this locus may contribute to sporadic FSGS.

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