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

Abstract

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.

End Stage Renal Disease in a Child with Epidermolysis Bullosa

“…The pathogenesis of renal damage is complex and several factors are involved: a) frequent antibiotic therapies based on aminoglycosides, notoriously nephrotoxic, used to treat renal and skin infections; b) cytokine release, particular amyloid A protein, which, in EB patients, may lead to renal failure; c) immunocomplexes, deposited in glomerular capillary basement membranes, or in the mesangium, resulting in post-infectious glomerulonephritis, IgA glomerulonephritis, or mesangial proliferative glomerulonephritis [5], besides the renal damage secondary to urinary tract stenosis/obstruction and associated infections [3] [4]. All these conditions can lead to chronic renal failure, although it is a rare cause of death in pediatric population [6].…”

Maintenance Hemodialysis Using Native Arteriovenous Fistula in a Patient with Severe Generalized Recessive Dystrophic Epidermolysis Bullosa

“…To the best of our knowledge, this is the first report of a patient with RDEB-sev gen introduced to hemodialysis using a native AVF. In these types of patients, peritoneal dialysis or hemodialysis with a permanent vascular catheter for blood purification have previously been reported [ 5 , 6 , 7 , 8 ], but most reports discussed difficulty establishing AVF or arteriovenous graft [ 9 ]. Moreover, in these patients, significant problems with repeated punctures and maintenance of hemostasis of the shunt after the establishment of AVF persisted.…”

Hla Typing in Epidermolysis Bullosa Patients: Relevancy to Gluten Sensitivity

“…With respect to IgAN, several case reports have populated the literature describing case of recessive DEB patients diagnosed of this renal pathology. [5,6,15]. IgAN is a glomerular disease characterized by prevalent mesangial IgA deposits, frequently is associated with macroscopic haematuria at level of mucosal infections [16,17].…”

“…The lesions, that interest also mucosal sites, result in erosions and scars in the epithelium of tracheo-bronchial, oesophageal, and genitourinary tract leading to stenosis and functional sequelae [5]. Among possible consequences of the disease, scientific literature has been populated with case reports indicating the risk of renal complications in DEB patients [6].…”