Our case suggests that the nature of fibromuscular dysplasia is congenital in origin and its aetiology, at least in some cases, is a systemic abnormality of vascular development.
Keywords Colchicine · Amyloid nephropathy · Recessive dystrophic epidermolysis bullosa Sirs,We read with interest the article entitled "Efficacy of colchicine therapy in amyloid nephropathy of familial Mediterranean fever (FMF)" by Oner in this journal [1] and would like to report our experience. Oner et al. [1] concluded that when used appropriately, colchicine can improve proteinuria and prevent chronic renal failure in patients with secondary amyloidosis of the kidneys due to FMF. Amyloid nephropathy is caused by the deposition of AA amyloid in the kidneys and may complicate several conditions associated with chronic inflammation or infection even in young adults, including FMF [2]. We have previously reported that amyloid nephropathy is also a common (more than half of the patients) and serious complication of recessive dystrophic epidermolysis bullosa (RDEB) [3]. RDEB is a rare heterogeneous group of disorders consisting of 23 clinical entities that share three common features: (1) inherently fragile skin; (2) recurrent blister formation, either spontaneously or following minor mechanical trauma; and (3) an inherited mode of transmission [4]. Although the mechanisms of how nephropathy develops in RDEB patients are currently unknown, we speculate that the nephropathy is the result of repeated infections, with sustained activation of a major acutephase response causing secondary amyloidosis [3].As colchicine has been postulated to be efficacious for amyloid nephropathy due to FMF [5, 6], we wondered whether this drug could prevent the progression of secondary amyloidosis in RDEB patients. Its efficacy is currently under investigation. We assessed deterioration of renal function (reciprocal creatinine) in four patients with amyloid nephropathy due to RDEB. Two patients (a 27-year-old male and a 30-year-old male) were taking 1.5 mg of colchicine daily and two patients (a 19-year-old female and a 22-year-old male) were not taking colchicine. Figure 1 shows that the slopes of reciprocal serum creatinine were less steep in the two patients taking colchicine (dashed lines) than the two patients not taking colchicine who reached end-stage renal disease within 3 years of the onset of amyloid nephropathy (solid lines). Fig. 1 Deterioration of renal function in patients with amyloid nephropathy due to recessive dystrophic epidermolysis bullosa. Dashed lines indicate the patients taking colchicine, while solid lines indicate the patients who were not taking colchicine [1/S-Cr reciprocal serum creatinine (mg/dl)]
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