Inherited epidermolysis bullosa and the risk of death from renal disease: Experience of the National Epidermolysis Bullosa Registry

Fine, Jo David; Johnson, Lorraine; Weiner, Madeline; Stein, Amy; Cash, Sarah; DeLeoz, Joy; Devries, David T.; Suchindran, Chirayath

doi:10.1053/j.ajkd.2004.06.007

Cited by 47 publications

(37 citation statements)

References 37 publications

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“…Because of severe skin blistering, pemphigoid patients are treated with effective immunosuppressive drugs, such as systemic corticosteroids, which might prevent the emergence of putative renal symptoms, such as proteinuria. Based on the data of the National EB Registry, renal failure might occur in junctional EB, although mainly for secondary reasons (Fine et al 2004;Almaani and Mellerio 2010). Hereditary nephritis has been found in junctional EB with pyloric atresia caused by mutations in the β4 integrin gene; however, only a minority of patients with ITGB4 mutations have renal involvement (Kambham et al 2000;Dang et al 2008;Almaani and Mellerio 2010).…”

Section: Discussionmentioning

confidence: 98%

Transmembrane collagen XVII is a novel component of the glomerular filtration barrier

et al. 2012

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The kidney filtration barrier consists of the capillary endothelium, the glomerular basement membrane and the slit diaphragm localized between foot processes of neighbouring podocytes. We report that collagen XVII, a transmembrane molecule known to be required for epithelial adhesion, is expressed in podocytes of normal human and mouse kidneys and in endothelial cells of the glomerular filtration barrier. Immunoelectron microscopy has revealed that collagen XVII is localized in foot processes of podocytes and in the glomerular basement membrane. Its role in kidney has been analysed in knockout mice, which survive to birth but have high neonatal mortality and skin blistering and structural abnormalities in their glomeruli. Morphometric analysis has shown increases in glomerular volume fraction and surface densities of knockout kidneys, indicating an increased glomerular amount in the cortex. Collagen XVII deficiency causes effacement of podocyte foot processes; however, major slit diaphragm disruptions have not been detected. The glomerular basement membrane is split in areas in which glomerular and endothelial basement membranes meet. Differences in the expression of collagen IV, integrins α3 or β1, laminin α5 and nephrin have not been observed in mutant mice compared with controls. We propose that collagen XVII has a function in the attachment of podocyte foot processes to the glomerular basement membrane. It probably contributes to podocyte maturation and might have a role in glomerular filtration.

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Section: Discussionmentioning

confidence: 98%

Transmembrane collagen XVII is a novel component of the glomerular filtration barrier

et al. 2012

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“…Nephro-urological surveillance (urinalysis, kidney, and urinary tract ultrasound) should be part of the routine evaluation from childhood [5]. The most frequent renal involvement is characterised by the onset of blisters and vesicles on the urothelium, resulting in extensive fibrosis and obstruction of the ureterovesical junction, with subsequent hydroureteronephrosis.…”

Section: Discussionmentioning

confidence: 99%

End-stage renal disease secondary to IgA nephropathy in recessive dystrophic epidermolysis bullosa: a case report

et al. 2008

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Epidermolysis bullosa (EB) consists of a group of dominant or recessive autosomal diseases characterised by skin and mucosa fragility. The lesions leave erosions and scars that, in turn, can cause stenosis of tracheal, oesophageal, and genitourinary tract mucosae. The significantly increased survival of EB patients has determined the onset of complications never observed before, including genitourinary disorders such as hydroureteronephrosis, recurrent urinary tract infections, renal amyloidosis, IgA nephropathy and post-infectious glomerulonephritis. A 6-year-old boy diagnosed with recessive dystrophic EB Hallopeau-Siemens type (RDEB-HS) was referred to our clinic because of microhaematuria that evolved into intra-infectious macrohaematuria. Renal biopsy revealed an increase in both extracellular matrix and mesangial cells, with a focal segmental glomerulosclerosis with severe chronic tubulointerstitial damage. Immunofluorescence showed IgA mesangium deposits. Five years later, he was started on haemodialysis, because of worsening renal function. This is a rare case of a child with EB who was successfully treated with haemodialysis. The pertinent literature has been reviewed.

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“…Furthermore, in a few patients with autosomal recessive dystrophic EB (OMIM #226600) due to mutations in (COL7A1), amyloidosis was seen to cause renal dysfunction (Fine et al 2004). However, there is no report of GABEB patients with amyloidosis.…”

Section: Introductionmentioning

confidence: 96%

Eosinophil infiltration in three patients with generalized atrophic benign epidermolysis bullosa from a Japanese family: molecular genetic and immunohistochemical studies

et al. 2005

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Generalized atrophic benign epidermolysis bullosa (GABEB), a subtype of epidermolysis bullosa (EB), is an autosomal recessive skin disease characterized by derm-epidermal separation leading to skin fragility and atrophy and other associated abnormalities. Although a few reports demonstrated that eosinophils are infiltrating beneath bullas in infants with some types of EB, no such condition in adult GABEB patients has been known. Here we report on three adult patients with GABEB from a Japanese family, whose bullous skin lesions showed massive eosinophil infiltration. One of the three patients showed amyloid deposition at the intestine, kidney, and skin. Linkage analysis revealed that GABEB in the family was linked to COL17A1 with a maximum LOD score of 3.08. Mutation analysis identified in the three patients a homozygous insertional mutation, 209-210insCA, in exon 5 of COL17A1. The expression of mutated COL17A1 was confirmed by semiquantitative RT-PCR, but no signals for truncated COL17A1 protein were detected by the immunohistochemical studies using antibodies against BP180. Furthermore, no autoantibody against the mutant protein was detected by western blot analysis. It is thus less likely that autoantibody and/or a local immune reaction in their skin has a primary role in eosinophil infiltration in these patients.

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Inherited epidermolysis bullosa and the risk of death from renal disease: Experience of the National Epidermolysis Bullosa Registry

Cited by 47 publications

References 37 publications

Transmembrane collagen XVII is a novel component of the glomerular filtration barrier

Transmembrane collagen XVII is a novel component of the glomerular filtration barrier

End-stage renal disease secondary to IgA nephropathy in recessive dystrophic epidermolysis bullosa: a case report

Eosinophil infiltration in three patients with generalized atrophic benign epidermolysis bullosa from a Japanese family: molecular genetic and immunohistochemical studies

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