C1q nephropathy in a child with a chromosome 13 deletion

Roberti, Isabel; Sachdev, Sachin; Aronsky, Adam; Kim, Dae Un

doi:10.1007/s00467-006-0046-1

Cited by 4 publications

(4 citation statements)

References 13 publications

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“…C1qNP has been reported in association with Gitelman syndrome [15], Bartter syndrome [16], chromosome 13 deletion [17] and severe atopic dermatitis [18]. Those associations between different syndromes and C1qNP could be explained by genetic predisposition.…”

Section: Discussionmentioning

confidence: 99%

C1q nephropathy in two young sisters

Kari

Jalalah

2007

Pediatr Nephrol

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C1q nephropathy (C1qNP) is a controversial and uncommon form of glomerulonephritis, characterized by mesangial immunoglobulin and complement deposits, predominantly C1q, with no evidence of systemic lupus erythematosus. Clinically, it may present as nephrotic syndrome and non-nephrotic proteinuria per se or associated with microhematuria, hypertension, or renal insufficiency. We describe two sisters with C1qNP, who presented with steroid-resistant nephrotic syndrome. Both sisters presented before the age of 2 years, and they showed a poor response to other immunosuppressive therapy. Both girls had normal serum complement levels, negative antinuclear antibodies (ANAs) and negative hepatitis B antigen. Renal biopsy in both patients showed histological features of mesangioproliferative glomerulonephritis, with diffuse "full-house" positive immunofluorescence reaction in the mesangial area. The immunofluorescence reaction for C1q was most intense and co-dominant with IgG in both patients. Correspondingly, electron microscopy demonstrated dense deposits mainly in the mesangial areas too. We report on two young sisters with the characteristic features of C1qNP presented in early childhood. To the best of our knowledge, this is the first report of C1qNP in siblings.

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Section: Discussionmentioning

confidence: 99%

C1q nephropathy in two young sisters

Kari

Jalalah

2007

Pediatr Nephrol

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“…C1qN has been reported in association with Bartter syndrome [14], Gitelman syndrome [15] and in a case of chromosome 13 deletion with retinoblastoma [16]. C1qN development in early childhood was also reported in two siblings [17].…”

Section: Discussionmentioning

confidence: 92%

The Heterogeneity and Controversy of C1q Nephropathy: A Report of Two Cases and Review of the Literature

Husain

2014

World J Nephrol Urol

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C1q is an uncommon, controversial and under-recognized entity. There is disagreement regarding whether it is an established disease or just part of the spectrum of minimal change disease and focal segmental glomerulosclerosis. C1q nephropathy is diagnosed solely by kidney biopsy. We report two cases of C1q nephropathy, one in a 39-year-old man and the other in an 8-year-old boy. Our two cases highlight the variable nature of this disease. In this article, we present our cases, review the criteria for diagnosis and highlight the heterogeneous nature of this disease in terms of clinical presentation, renal biopsy and variable outcomes. We also discuss the postulated etiopathogenetic mechanisms and note the reported associations.

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“…Since the first report of C1q nephropathy by Jennette and Hipp, various case reports have also appeared [20][21][22][23][24][25][26][27][28][29][30][31][32][33]. Among the cases included are rare cases featuring unusual clinical course, atypical pathological findings, involvement of genetic diseases and viral infection.…”

Section: Various Cases Of C1q Nephropathymentioning

confidence: 97%

Current status and issues of C1q nephropathy

et al. 2009

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C1q nephropathy, first proposed by Jennette and Hipp [Am J Clin Pathol 83:415-420, 1985; Am J Kidney Dis 6:103-110, 1985], was described as a distinct glomerular disease entity characterized by extensive mesangial deposition of C1q, with associated mesangial immune complexes, and the absence of any clinical and laboratory evidence of systemic lupus erythematosus. Now, 20 years since the first report, the disease entity is gradually attaining recognition, particularly in the field of pediatrics. C1q is the subcomponent of C1 in the classical pathway of complement activation. Generally, C1q deposition is caused by the activation of C1 by immunoglobulin G (IgG) and IgM; therefore, C1q nephropathy is considered as an immune complex glomerulonephritis. However, in C1q nephropathy, it remains unclear whether the deposition of C1q in the glomeruli is in response to the deposition of immunoglobulin or immune complex, or whether deposition is non-specific trapping that accompanies increased glomerular protein trafficking associated with proteinuria. Since not only the pathogenesis of C1q deposition in glomeruli but also its significance are still uncertain, it has not yet been established as an independent disease. From recent publications of the clinical and pathological characterizations, C1q nephropathy has been thought to be a subgroup of primary focal segmental glomerular sclerosis. However, many reports describe different symptoms, histopathologies, therapeutic responses and prognoses, suggesting that C1q nephropathy is not a single disease entity, but that it may be a combination of several disease groups. There are many uncertain areas requiring further investigation, though it is hoped that a detailed examination of future cases will clarify the subgroups making up C1q nephropathy and their clinicopathological characteristics, and will lead to the establishment of C1q nephropathy as an independent disease entity.

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C1q nephropathy in a child with a chromosome 13 deletion

Cited by 4 publications

References 13 publications

C1q nephropathy in two young sisters

C1q nephropathy in two young sisters

The Heterogeneity and Controversy of C1q Nephropathy: A Report of Two Cases and Review of the Literature

Current status and issues of C1q nephropathy

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