Familial collapsing focal segmental glomerulosclerosis

被引：16

作者：

Liakopoulos, V. ^{[4
]}

Huerta, A. ^{[1
]}

Cohen, S. ^{[1
]}

Pollak, M. R. ^{[5
]}

Sirota, R. A. ^{[2
]}

Superdock, K. ^{[3
]}

Appel, G. B. ^{[1
]}

机构：

[1] Columbia Univ Coll Phys & Surg, Dept Med, Div Nephrol, New York, NY 10032 USA

[2] Abington Mem Hosp, Abington, PA 19001 USA

[3] Lankenau Hosp, Wynnewood, PA USA

[4] Univ Thessaloniki, GR-54006 Thessaloniki, Greece

[5] Harvard Univ, Sch Med, Boston, MA USA

来源：

CLINICAL NEPHROLOGY | 2011年 / 75卷 / 04期

关键词：

focal glomerulosclerosis; collapsing; glomerulopathy; hereditary glomerulonephropathy; RENAL-FUNCTION; GLOMERULOPATHY; ALPHA-ACTININ-4; ASSOCIATION; INFECTION; VARIANTS; DISEASES; THERAPY; ACTN4; HIV;

D O I：

10.5414/CN106544

中图分类号：

R5 [内科学]; R69 [泌尿科学（泌尿生殖系疾病）];

学科分类号：

1002 ; 100201 ;

摘要：

The majority of patients with non-HIV-related collapsing focal segmental glomerular sclerosis (FSGS) have idiopathic disease. Only a few genetic forms associated with rare syndromes have been described in families. Here we report two families with multiple members who have collapsing FSGS with no clear associated secondary etiology. Genetic analysis revealed a defect in the TRPC6 gene in one family, but excluded all known common inherited podocyte defects in the other family. The course and response to treatment differed dramatically among members of the same family.

引用

页码：362 / 368

页数：7

共 50 条

[21] FAMILIAL NEPHROTIC SYNDROME AND FOCAL SEGMENTAL GLOMERULOSCLEROSIS
CHANDRA, M
MOURADIAN, J
HOYER, JR
LEWY, JE
JOURNAL OF PEDIATRICS, 1981, 98 (04): : 556 - 560
[22] Collapsing focal segmental glomerulosclerosis induced by cytomegalovirus: A case report
Greze, Clarisse
Garrouste, Cyril
Kemeny, Jean-Louis
Philipponnet, Carole
Aniort, Julien
Heng, Anne-Elisabeth
NEPHROLOGIE & THERAPEUTIQUE, 2018, 14 (01): : 50 - 53
[23] ImmunosuppressantsCytomegalovirus associated collapsing focal segmental glomerulosclerosis: case report
Reactions Weekly, 2023, 1979 (1) : 235 - 235
[24] ADRENOCORTICOTROPIC HORMONE GEL AND COLLAPSING VARIANT FOCAL SEGMENTAL GLOMERULOSCLEROSIS
Huang, Solomon
Pham, Phuong C.
AMERICAN JOURNAL OF KIDNEY DISEASES, 2015, 65 (04) : A43 - A43
[25] Remission of collapsing focal segmental glomerulosclerosis following chemotherapy for myeloma
Shah, S
Cavenagh, J
Sheaf, M
Thuraisingham, RC
AMERICAN JOURNAL OF KIDNEY DISEASES, 2004, 43 (02)
[26] Collapsing Focal Segmental Glomerulosclerosis in children: a Colombian case series
Martinez Serrano, Karen America
Abbate Jimenez, Kerolain
Fajardo Quevedo, Laura del Carmen
Duarte Rodriguez, Maryin Melisa
Osorio Romero, Diego Alejandro
Jimenez Triana, Climaco Andres
PEDIATRIC NEPHROLOGY, 2023, 38 (07) : 2460 - 2460
[27] Collapsing focal segmental glomerulosclerosis in a liver transplant recipient on alendronate
J. Pascual
J. Torrealba
J. Myers
S. Tome
M. Samaniego
A. Musat
A. Djamali
Osteoporosis International, 2007, 18 : 1435 - 1438
[28] Collapsing focal segmental glomerulosclerosis in a liver transplant recipient on alendronate
Pascual, J.
Torrealba, J.
Myers, J.
Tome, S.
Samaniego, M.
Musat, A.
Djamali, A.
OSTEOPOROSIS INTERNATIONAL, 2007, 18 (10) : 1435 - 1438
[29] UNUSUAL PRESENTATION OF COLLAPSING FOCAL SEGMENTAL GLOMERULOSCLEROSIS INDUCED BY GRISEOFULVIN
Sharma, Neetu
AMERICAN JOURNAL OF KIDNEY DISEASES, 2012, 59 (04) : A76 - A76
[30] Collapsing Focal Segmental Glomerulosclerosis in a Patient with Systemic Lupus Erythematosus
Tariq, Hassan
Rafiq, Arsalan
Franchin, Giovanni
CASE REPORTS IN MEDICINE, 2014, 2014

← 1 2 3 4 5 →