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Saudi Journal of Kidney Diseases and Transplantation
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Year : 2011  |  Volume : 22  |  Issue : 2  |  Page : 311-314
Hemodialysis-associated pseudoporphyria resistant to N-acetylcysteine

1 Service of Nephrology, Haemodialysis and Kidney Transplantation, Military Hospital, Mohammed V, Rabat, Morocco
2 Center of Haemodialysis, Maamoura Kenitra, Morocco
3 Service of Dermatology, Military Hospital, Mohammed V, Rabat, Morocco

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Date of Web Publication18-Mar-2011


We report a 33-year-old female patient who had hemodialysis-associated pseudo­porphyria which did not respond to treatment with oral N-acetylcysteine. She responded favorably to treatment with the anti-malarial drug, chloroquine. The case is being reported to highlight the difficulty in interpreting the urinary porphyrin assays in patients on hemodialysis. Additionally, the current literature on pseudoporphyria disorders in patients with end-stage renal disease is briefly discussed.

How to cite this article:
El Kabbaj D, Laalou A, Alouane Z, Bahadi A, Oualim Z. Hemodialysis-associated pseudoporphyria resistant to N-acetylcysteine. Saudi J Kidney Dis Transpl 2011;22:311-4

How to cite this URL:
El Kabbaj D, Laalou A, Alouane Z, Bahadi A, Oualim Z. Hemodialysis-associated pseudoporphyria resistant to N-acetylcysteine. Saudi J Kidney Dis Transpl [serial online] 2011 [cited 2020 Jun 3];22:311-4. Available from: http://www.sjkdt.org/text.asp?2011/22/2/311/77614

   Introduction Top

Pseudoporphyria (PP) is a photo-distributed vesiculo-bullous disorder that clinically and his­tologically resembles porphyria cutanea tarda (PCT), but without the accompanying bioche­mical porphyrin abnormalities. Initially used in 1975 [1] to describe patients with chronic renal failure having a bullous disease resembling PCT, PP has subsequently been attributed to medi­cations, ultraviolet A radiation, excessive sun exposure, and chronic renal failure per se.

   Case Report Top

A 33-year-old female patient presented with a four-week history of blisters and skin fragility on the sun-exposed sites of her distal limbs [Figure 1]. There was associated hypertrichosis and hyperpigmentation [Figure 2] as well as sclerodermoid changes. She had been receiving intermittent hemodialysis (HD) for the prece­ding five years for end-stage renal disease (ESRD) of undetermined origin. There was his­tory of recent excessive exposure to sunlight during the summer months. There was no his­tory of photosensitivity, liver disease or exce­ssive alcohol consumption. Family history was unremarkable. Apart from oral contraceptive pills (OCP), which she had been taking for 10 years, she was not on any other photosen­sitizing drugs. Skin biopsy showed sub-epider­mal hemorrhagic vesicles with no significant inflammation [Figure 3]. Direct immunofluore­scence study was not performed. The serum ferritin level was seven times beyond the normal range. Complete blood cell count, results of li­ver function tests, and serum iron levels were within normal limits. Levels of plasma porphyrins were normal (protoporphyrin <50 μg/L (normal < 0.80 μg/L), coproporphyrin <0.01 μg/L (nor­mal < 0.01 μg/L); urinary levels were high por­phobilinogen 21 μmol/dL (normal <9 μmol/dL), uroporphyrin 3255 nmol/dL (normal <30 nmol/ dL); coproporphyrin I was normal at 3 nmol/dL (normal <38 nmol/dL) and coproporphyrin III was normal at 3 nmol/dL (normal <114 nmol/ dL). Serologic tests for hepatitis C, B and HIV were negative. Other laboratory investigations were as follows: hemoglobin 8.8 g/dL (normal range 11.5-16.5 g/dL); serum iron 14 μmol/L (normal range 10-30 μmol/L); ferritin 500 μg/L (normal range 10-250 μg/L); alkaline phospha­tase 130 U/L (normal range 35-120 U/L); alanine aminotransferase 20 U/L (normal range 10-56 U/L); aspartate aminotransferase 18 U/L (nor­mal range 10-40 U/L) and y-glutamyltransferase 23 U/L (normal range 12-58 U/L).
Figure 1: Clinical photograph showing vesicles and erosions on the dorsal aspect of the hands.

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Figure 2: Clinical photograph showing hypertrichosis and hyperpigmentation.

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Figure 3: Skin biopsy showed sub-epidermal hemorrhagic vesicles with no significant inflammation.

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We advised strict sun protection with shield and discontinuation of the OCP. Despite these measures, the patient continued to develop blis­ters on a daily basis. We therefore commenced oral N-acetylcysteine (NAC), 400 mg twice daily. The patient tolerated this treatment well with no adverse effects but had incomplete re­solution of blisters after three months of treat­ment. Therefore, we switched to the anti-mala­rial drug, chloroquine, given 200 mg weekly, with satisfactory results after one month [Figure 4].
Figure 4: Disappearance of blisters and shaggy appearance after treatment for one month with the anti-malarial drug, chloroquine.

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   Discussion Top

The epidemiology of PP differs depending on the etiologic agent. Naproxen-induced PP in adults occurs primarily in women. [2] Also, fe­male cases clearly predominate in tanning bed­induced PP, [3],[4] but may reflect trends in gender use of artificial tanning. Our patient presented with the disorder in summer following invo­luntary exposure to sunlight.

Bullous skin disorders occurring in the setting of ESRD are well recognized. [5] PP (also termed bullous dermatosis of ESRD) has been estima­ted to occur in 1.2-18% of patients on HD, [5] and less frequently in those on peritoneal dialysis. True PCT, due to an acquired (Type I) or inhe­rited (Type II) deficiency of the enzyme uropor­phyrinogen decarboxylase (UROD), has also been described in patients with ESRD. Patients with ESRD having PCT demonstrate the typical plas­ma porphyrin profile of PCT, with moderate to large increase of uroporphyrins I and III, and a significant increase in heptacarboxyl III. [6],[7] The highly carboxylated uroporphyrins in the plas­ma and skin, which subsequently accumulate, become excited following UV exposure, relea­sing the reactive oxygen species (ROS) such as singlet oxygen and hydroxyl radicals that lead to decreased subcutaneous oxygenation and lo­cal ischemia. Conflicting results have been re­ported concerning the plasma porphyrin levels in patients with ESRD and PP. Many have the typical plasma porphyrin profile of ESRD pa­tients without bullous skin lesions, [6],[7] while others have significantly higher levels of plas­ma uroporphyrins. Interestingly, plasma uropor­phyrin levels are generally higher in patients on HD compared with those on peritoneal dialysis, which may explain the lower incidence of PP in the latter group. [7] Abnormal porphyrin profiles in ESRD patients with PP are due to impaired excretion, rather than UROD deficiency, in con­trast to true PCT. Irrespective of the mecha­nism, it is likely that the increased plasma por­phyrin profile contributes to skin photosensi­tivity and blistering similar to PCT, with the formation of ROS being critical in this process. Patients with ESRD are especially prone to oxi­dative stress due to reduced levels of gluta­thione in plasma and circulating erythrocytes, which may increase their susceptibility to the effects of UV exposure at even lower porphyrin levels. A factor that may be important in the de­velopment of PP in some ESRD patients is the co-administration of exogenous photosensitizing agents such as frusemide and estrogens. A pos­sible association between high serum aluminum levels and PP in ESRD patients has also been suggested, as aluminum can cause accumulation of both uro- and proto-porphyrins. [8] Our patient had elevation of urinary porphyrin level, which is not a feature of PP, while the plasma uropor­ phyrin levels were normal; we considered the diagnosis of PP based on the plasma results.

NAC is a metabolic precursor of glutathione [9] and its administration increases intracellular bio-synthesis of glutathione in vivo in situations of increased oxidative stress. [10],[11] As such, NAC is commonly used as an antidote to acetamino­ phen overdose, in which hepatocellular necrosis can be prevented by glutathione repletion. Our patient did not respond to NAC. The result on treatment with the antimalarial drug, chloroquine, was favorable.

   References Top

1.Korting GW. Porphyria cutanea tarda-like as­pects in two prolonged hemodialysis patients. Dermatologica 1975;150:58-61.  Back to cited text no. 1
2.Creemers MC, Chang A, Franssen MJ, Fiselier TJ, van Riel PL. Pseudoporphyria due to nap­roxen. Scand J Rheumatol 1995;24:185-7.  Back to cited text no. 2
3.Epstein JH. Pseudoporphyria and UVA suntan salons [abstract]. Photochem Photobiol 1987;45 (Suppl):40S.  Back to cited text no. 3
4.Wilson CL, Mendelsohn SS. Identical twins with sunbed-induced pseudoporphyria. J R Soc Med 1992;85:45-6.  Back to cited text no. 4
5.GreenJ,Manders S. Pseudoporphyria. Am Acad Dermatol 2001;44:100-8.  Back to cited text no. 5
6.Hindmarsh JT, Oliveras L, Greenway DC. Plasma porphyrins in the porphyrias. Clin Chem 1999;45:1070-6.  Back to cited text no. 6
7.Glynne P, Deacon A, Goldsmith D, et al. Bullous dermatoses in end stage renal failure: porphyria or pseudoporphyria? Am J Kidney Dis 1999; 34:155-60.  Back to cited text no. 7
8.Gafter U, Mamet R, Korzets A, et al. Bullous dermatosis of end-stage renal disease: a possible association between abnormal porphyrin meta­bolism and aluminium. Nephrol Dial Transplant 1996;11:1787-91.  Back to cited text no. 8
9.Lomaestro BM, Malone M. Glutathione in health and disease: pharmacotherapeutic issues. Ann Pharmacother 1995;29:1263.  Back to cited text no. 9
10.Biasioli S, Schiavon R, Petrosino L, Cavallini L, Cavalcanti G, De Fanti E. Dialysis kinetics of homocysteine and reactive oxygen species. ASAIO J 1998;42:M890-4.  Back to cited text no. 10
11.De Flora S, Bennicelli C, Camoirano A, et al. In vivo effects of N-acetylcysteine on glutathione metabolism and on biotransformation of carci­nogenic and/or mutagenic compounds. Carcino­genesis 1985;6:1735-45.  Back to cited text no. 11

Correspondence Address:
Driss El Kabbaj
Service of Nephrology, Haemodialysis and Kidney Transplantation, Military Hospital, Mohammed V, Rabat
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PMID: 21422632

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  [Figure 1], [Figure 2], [Figure 3], [Figure 4]


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