RESUMO
Epidermolysis bullosa (EB) is a devastating genetic condition caused by mutations in genes that give rise to aberrant proteins. There are 16 different such proteins implicated in EB that are important in maintaining the integrity of the dermoepidermal junction. It is classified into four major subtypes: (i) EB simplex; (ii) junctional EB (JEB); (iii) dystrophic EB (DEB); and (iv) Kindler EB. Renal disease is a recognized complication of EB and the aetiology is complex. We describe our experience of managing five patients with EB and IgA nephropathy. We recommend that patients with recessive DEB and JEB routinely have the following monitored: renal function, urinary albumin/creatinine ratio, urine analysis, serum albumin levels and immunoglobulins; specifically serum IgA. Management of IgA nephropathy in the context of EB should be tailored to the individual and be carried out within a specialist multidisciplinary team. Our case series provides important insights into the treatment of IgA nephropathy in patients with EB and will help inform treatment in this rare genetic disease. Case series and reports like ours are key in gaining real-life data to quantify the actual risk of morbidity and mortality from each of the treatment modalities discussed.
Assuntos
Epidermólise Bolhosa , Glomerulonefrite por IGA , Adulto , Humanos , Epidermólise Bolhosa/sangue , Epidermólise Bolhosa/complicações , Epidermólise Bolhosa/genética , Epidermólise Bolhosa/terapia , Epidermólise Bolhosa Distrófica , Epidermólise Bolhosa Simples , Epidermólise Bolhosa Juncional , Glomerulonefrite por IGA/sangue , Glomerulonefrite por IGA/etiologia , Glomerulonefrite por IGA/genética , Glomerulonefrite por IGA/terapiaRESUMO
We describe the successful use of rituximab for the treatment of IgA nephropathy in a patient with recessive dystrophic epidermolysis bullosa. To our knowledge, this is the first reported case in the literature.
Assuntos
Antineoplásicos , Epidermólise Bolhosa Distrófica , Epidermólise Bolhosa , Glomerulonefrite por IGA , Anticorpos Monoclonais , Epidermólise Bolhosa Distrófica/complicações , Epidermólise Bolhosa Distrófica/tratamento farmacológico , Glomerulonefrite por IGA/complicações , Glomerulonefrite por IGA/tratamento farmacológico , Humanos , Rituximab/uso terapêuticoRESUMO
Laparoscopic adjustable gastric banding is an established and popular technique for achieving weight loss in the morbidly obese. It is however not without risks of morbidity and even mortality. The authors present a case report of a 46-year-old female who had a cardiac arrest after adjustment of a gastric band. The pathomechanisms to explain this event are explored and a review of the available literature is undertaken.