Porphyria cutanea tarda in a patient on chronic ambulatory peritoneal dialysis.

Porphyria cutanea tarda is a disorder of heme biosynthesis resulting from a defect or deficiency in the enzyme uroporphyrinogen decarboxylase. Heme precursors accumulate in the blood, urine, stool, and skin, where exposure to sunlight results in the clinical manifestations. Porphyria cutanea tarda has been described in adult hemodialysis patients. The pathogenesis of porphyria cutanea tarda in this population is thought to be related to the inability of hemodialysis to adequately clear porphyrin precursors, resulting in increased precursor serum levels, precursor skin deposition, and subsequent clinical manifestations. A proper diagnosis of porphyria cutanea tarda in hemodialysis patients requires fractionation of serum porphyrins. Normalization of the porphyrin profile and reversal of the dermal manifestations require the withdrawal of hepatotoxic agents and the reversal of hepatic iron overload. A case of porphyria cutanea tarda in an adult ESRD patient treated with continuous ambulatory peritoneal dialysis is described. In this patient, the disease was related to elevated serum levels of phenytoin, which had been administered for seizure disorder.

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Sight-threatening progressive corneo-scleral involvement in porphyria cutanea tarda

BMJ Case Reports ◽

10.1136/bcr-2021-245160 ◽

2021 ◽

Vol 14 (10) ◽

pp. e245160

Author(s):

Sonali Prasad ◽

Vidhata Vidhata ◽

Subhash Prasad

Keyword(s):

Porphyria Cutanea Tarda ◽

Clinical Manifestations ◽

Ocular Involvement ◽

Slit Lamp ◽

Uroporphyrinogen Decarboxylase ◽

Progressive Loss ◽

The Right ◽

Lost To Follow Up ◽

Test Serum

Porphyria cutanea tarda is the most common type of porphyria. It is associated with a deficiency of uroporphyrinogen decarboxylase enzyme responsible for heme synthesis. Clinical manifestations are predominantly dermatological and very rarely present with ocular involvement. Although scleral thinning in the interpalpebral area is a well-documented entity, sight-threatening corneal involvement is rarely described. We, herein report a case of a 58-year-old man who presented with ocular surface dryness, photophobia and mild redness. Slit-lamp biomicroscopy revealed corneo-scleral thinning in both eyes. The diagnosis was confirmed with a urine porphyrin test, serum iron and serum ferritin levels. We started him on conservative management after which he was lost to follow-up. He presented again after 6 years with total corneal opacification and progressive loss of vision in the right eye.

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Pseudoporphyria Cutanea Tarda and Non-A Non-S Hepatitis in a CAPD Patient

Peritoneal Dialysis International ◽

10.1177/089686088700700405 ◽

1987 ◽

Vol 7 (4) ◽

pp. 231-233 ◽

Cited By ~ 2

Author(s):

Martin Zeier ◽

Manfred Doss ◽

Traugott Ziegler ◽

Eberhard Ritz ◽

Michael Rambausek

Keyword(s):

Peritoneal Dialysis ◽

Porphyria Cutanea Tarda ◽

Skin Lesions ◽

Chronic Glomerulonephritis ◽

Red Cell ◽

Uroporphyrinogen Decarboxylase ◽

Bullous Dermatosis ◽

One Year ◽

Serum Aminotransferases ◽

Capd Patient

A 47-year-old man was treated by continuous ambulatory peritoneal dialysis (CAPD) because of chronic glomerulonephritis. One year later he developed skin friability and bullous dermatosis resembling porphyria cutanea tarda. The skin lesions were associated with an elevation of serum aminotransferases, most probably due to a blood transfusion-induced, non-A non-B hepatitis. Urinary, fecal and blood porphyrins including the activity of red cell uroporphyrinogen decarboxylase were normal. Thus we accepted the diagnosis of pseudoporphyria cutanea tarda in view of the relatively frequent association of cutaneous disease with maintenance dialysis.

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Down-regulation of hepcidin in porphyria cutanea tarda

Blood ◽

10.1182/blood-2008-02-138222 ◽

2008 ◽

Vol 112 (12) ◽

pp. 4723-4728 ◽

Cited By ~ 30

Author(s):

Richard S. Ajioka ◽

John D. Phillips ◽

Robert B. Weiss ◽

Diane M. Dunn ◽

Maria W. Smit ◽

...

Keyword(s):

Iron Overload ◽

Porphyria Cutanea Tarda ◽

Hereditary Hemochromatosis ◽

Elevated Serum ◽

The Other ◽

Hepatic Iron ◽

Iron Loading ◽

Hepatic Expression ◽

Hepatic Iron Overload ◽

Genetic And Environmental Factors

Abstract Hepatic siderosis is common in patients with porphyria cutanea tarda (PCT). Mutations in the hereditary hemochromatosis (hh) gene (HFE) explain the siderosis in approximately 20% patients, suggesting that the remaining occurrences result from additional genetic and environmental factors. Two genes known to modify iron loading in hh are hepcidin (HAMP) and hemojuvelin (HJV). To determine if mutations in or expression of these genes influenced iron overload in PCT, we compared sequences of HAMP and HJV in 96 patients with PCT and 88 HFE C282Y homozygotes with marked hepatic iron overload. We also compared hepatic expression of these and other iron-related genes in a group of patients with PCT and hh. Two intronic polymorphisms in HJV were associated with elevated serum ferritin in HFE C282Y homozygotes. No exonic polymorphisms were identified. Sequencing of HAMP revealed exonic polymorphisms in 2 patients with PCT: heterozygosity for a G→A transition (G71D substitution) in one and heterozygosity for an A→G transition (K83R substitution) in the other. Hepatic HAMP expression in patients with PCT was significantly reduced, regardless of HFE genotype, when compared with patients with hh but without PCT with comparable iron overload. These data indicate that the hepatic siderosis associated with PCT likely results from dysregulated HAMP.

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Evaluation of Hepcidin Isoforms in Hemodialysis Patients by a Proteomic Approach Based on SELDI-TOF MS

Journal of Biomedicine and Biotechnology ◽

10.1155/2010/329646 ◽

2010 ◽

Vol 2010 ◽

pp. 1-7 ◽

Cited By ~ 25

Author(s):

Natascia Campostrini ◽

Annalisa Castagna ◽

Federica Zaninotto ◽

Valeria Bedogna ◽

Nicola Tessitore ◽

...

Keyword(s):

Elevated Serum ◽

Serum Levels ◽

Hemodialysis Patients ◽

Dialysis Session ◽

Chronic Haemodialysis ◽

Geometric Means ◽

Biological Meaning ◽

Proteomic Approach ◽

Clinical Conditions ◽

Tof Ms

The hepatic iron regulator hormone hepcidin consists, in its mature form, of 25 amino acids, but two other isoforms, hepcidin-20 and hepcidin-22, have been reported, whose biological meaning remains poorly understood. We evaluated hepcidin isoforms in sera from 57 control and 54 chronic haemodialysis patients using a quantitative proteomic approach based on SELDI-TOF-MS. Patients had elevated serum levels of both hepcidin-25 and hepcidin-20 as compared to controls (geometric means: 7.52 versus 4.69 nM, and 4.06 versus 1.76 nM, resp.,P<.05for both). The clearance effects of a single dialysis session by different dialysis techniques and membranes were also investigated, showing an average reduction by51.3%±29.2% for hepcidin-25 and34.2%±28.4% for hepcidin-20 but only minor differences among the different dialysis modalities. Measurement of hepcidin isoforms through MS-based techniques can be a useful tool for better understanding of their biological role in hemodialysis patients and other clinical conditions.

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Does Chronic Low-grade Systemic Inflammation Change Tumor Markers Levels in Patients on Hemodialysis?

Folia Medica ◽

10.3897/folmed.62.e51457 ◽

2020 ◽

Vol 62 (4) ◽

pp. 838-842

Author(s):

Gilmar Pereira Silva ◽

Vítor Pereira Xavier Grangeiro ◽

Carmelita Félix Dantas de Oliveira

Keyword(s):

Tumor Markers ◽

Systemic Inflammation ◽

Elevated Serum ◽

Serum Levels ◽

Hemodialysis Patients ◽

Low Grade ◽

C Reactive Protein ◽

Reactive Protein ◽

Significant Difference ◽

The University

Introduction: End-stage renal disease (ESRD) patients are known to have a high risk of developing cancer-related inflammation. Elevated serum levels of tumor markers in ESRD/hemodialysis patients makes analysis and interpretation difficult.  Aim: To verify the possible relationship between chronic low-grade systemic inflammation serum levels determined by C-reactive protein (CRP) and the tumor biomarkers in patients on hemodialysis.  Materials and methods: A prospective study of prevalence was conducted in the Hemodialysis Sector of the University Hospital of the University of Brasília between July 2016 and December 2016 in men aged 18 to 60 years without clinically detectable cancer. We assessed inflammation by serum high-sensitivity CRP test (hs-CRP) and serum tumor in the case groups and controls. The hemodialysis group was split into two subgroups: group 1: patients with inflammation (CRP > 5 mg/L, n=27), and group 2: patients without inflam-mation (CRP ≤5 mg/L, n=33). Results: There was no significant difference in age mean levels between case groups and controls (44.00±08.00 vs. 41.00±07.00, p=0.08). There was no difference or correlation (p>0.05) between tumor markers levels and patients with and without inflammation.  Conclusions: The results of this study suggest that chronic low-grade systemic inflammation defined by C-reactive protein serum levels does not promote elevated serum PSA levels in chronic hemodialysis patients.

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Elevated Serum Levels of Soluble CD163 in Polymyositis and Dermatomyositis: Associated with Macrophage Infiltration in Muscle Tissue

The Journal of Rheumatology ◽

10.3899/jrheum.141307 ◽

2015 ◽

Vol 42 (6) ◽

pp. 979-987 ◽

Cited By ~ 18

Author(s):

Qing-Lin Peng ◽

Yin-Li Zhang ◽

Xiao-Ming Shu ◽

Han-Bo Yang ◽

Lu Zhang ◽

...

Keyword(s):

Muscle Tissue ◽

Laboratory Data ◽

Elevated Serum ◽

Clinical Manifestations ◽

Serum Levels ◽

High Serum ◽

Macrophage Infiltration ◽

Healthy Controls ◽

Soluble Cd163 ◽

Cell Counts

Objective.To investigate serum levels of soluble CD163 (sCD163) in patients with polymyositis (PM) and dermatomyositis (DM), and to correlate these to clinical manifestations and laboratory data.Methods.Serum levels of sCD163 were detected in 24 patients with PM, 84 patients with DM, and 46 healthy controls by using the ELISA method. Immunohistochemistry staining of macrophage infiltration in muscle tissue using anti-CD163 monoclonal antibody was conducted on muscle biopsy specimens from 13 patients with PM and 17 with DM.Results.Serum levels of sCD163 were significantly increased in patients compared with healthy controls (p < 0.001). Patients with interstitial lung disease (ILD) had statistically higher sCD163 levels than patients without ILD (p < 0.001). High serum sCD163 levels were associated with increased incidence of antinuclear antibody (p < 0.05), higher serum levels of immunoglobulin G (p < 0.01) and immunoglobulin A (p < 0.05), and increased erythrocyte sedimentation rates (p < 0.01). Serum sCD163 levels were inversely correlated with CD3+ T cell counts in peripheral blood of patients (r = −0.306, p < 0.01). Cross-sectional assessment and longitudinal study revealed a significant correlation between serum sCD163 levels and disease activity. Patients with high serum sCD163 levels showed a higher incidence of CD163+ macrophage infiltration in muscle tissue than patients with normal sCD163 levels (chi-square value = 10.804, p < 0.01).Conclusion.Serum levels of sCD163 were significantly elevated and correlated with disease severity in patients with PM/DM, suggesting serum sCD163 as a promising biomarker in the disease evaluation of PM/DM. Our finding of elevated serum sCD163 levels associated with muscle macrophage infiltration highlights the role activated macrophage plays in the pathogenesis of PM/DM.

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Comparison of Control of Serum Phosphate Levels during Continuous Ambulatory Peritoneal Dialysis and during Hemodialysis

Peritoneal Dialysis International ◽

10.1177/089686088300300213 ◽

1983 ◽

Vol 3 (2) ◽

pp. 97-98 ◽

Cited By ~ 7

Author(s):

Jorge B Cannata ◽

James D Briggs ◽

Gordon S Fell ◽

Brian J.R. Junor

Keyword(s):

Peritoneal Dialysis ◽

Continuous Ambulatory Peritoneal Dialysis ◽

Aluminium Hydroxide ◽

Protein Intake ◽

Serum Levels ◽

Aluminium Toxicity ◽

Hemodialysis Patients ◽

Serum Phosphate ◽

Serum Phosphate Level ◽

Phosphate Control

Recent reports have suggested that oral aluminium hydroxide carries the risk of aluminium toxicity. We have compared the aluminium hydroxide dose and serum levels of phosphate and aluminium in 27 CAPD and 26 hemodialysis patients. Despite a more liberal protein intake and lower aluminium hydroxide dose, the CAPD patients achieved the same serum phosphate level as those on hemodialysis. While the reason for more efficient serum phosphate control with CAPD is uncertain, the better control gives CAPD an advantage in patients in whom it is particularly important to minimise exposure to aluminium.

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Myoglobin Elimination in End Stage Kidney Disease Patients on Renal Replacement Treatment

The International Journal of Artificial Organs ◽

10.1177/039139889301600906 ◽

1993 ◽

Vol 16 (9) ◽

pp. 659-661 ◽

Cited By ~ 7

Author(s):

V. Stefanović ◽

M. Bogićević ◽

M. Mitić

Keyword(s):

Peritoneal Dialysis ◽

Kidney Disease ◽

Serum Levels ◽

Hemodialysis Patients ◽

Peritoneal Membrane ◽

End Stage Kidney Disease ◽

Replacement Treatment ◽

End Stage ◽

Hemodialysis Membrane ◽

Serum Myoglobin

Increased serum myoglobin levels were previously found in patients with chronic renal failure. In this report we have studied the effects of dialysis on myoglobin elimination in patients on CARD, IPD, cuprophan and polyacrylonitrile (PAN) membrane hemodialysis. Peritoneal dialysis removed a significant amount of myoglobin, CAPD 480 ± 65 μg/day, IPD 270 ± 25 μg/12 h treatment, while with cuprophan dialysis none, and with PAN dialysis only an insignificant amount of myoglobin. The serum myoglobin levels were 250 ± 18 and 264 ± 14 μg/l on cuprophan and a 3 month dialysis on PAN membrane, respectively. Markedly increased serum levels were also found in CAPD and IPD patients on peritoneal dialysis, 227 ± 25 and 286 ± 32 μg/l respectively. This study has shown that there is an increased serum myoglobin concentration in end-stage kidney disease patients on dialysis. Although peritoneal membrane is permeable to myoglobin, a relatively small amount is removed, and the serum level in CAPD and IPD patients was not significantly different from the serum myoglobin concentration in hemodialysis patients. Furthermore myoglobin could not be removed by hemodialysis membrane and an analysis of its important extrarenal catabolism level points were analyzed.

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Beta-2 Microglobulin in Peritoneal Dialysis Patients: Serum Levels and Peritoneal Clearances

Peritoneal Dialysis International ◽

10.1177/089686088800800110 ◽

1988 ◽

Vol 8 (1) ◽

pp. 43-47 ◽

Cited By ~ 14

Author(s):

Carol R. DiRaimondo ◽

Patricia McCarley ◽

William J. Stone

Keyword(s):

Peritoneal Dialysis ◽

Serum Levels ◽

Hemodialysis Patients ◽

Chronic Hemodialysis ◽

Bone Lesions ◽

Dialysis Patients ◽

Urea Nitrogen ◽

Pathologic Fractures ◽

Beta 2 ◽

Beta 2 Microglobulin

Beta-2 microglobulin (B2M) is amyloidogenic in long-term hemodialysis patients, with amyloid deposition manifesting as lytic bone lesions, carpal tunnel syndrome, destructive arthropathies, tenosynovitis, and pathologic fractures. To study the behavior of this protein in the peritoneal dialysis population, serum levels of B2M from 14 chronic peritoneal dialysis (CPD) patients (4IPD, 10 CAPD) were compared to those of 15 chronic hemodialysis patients, and peritoneal clearances were measured in 9 CAPD patients. Standard cuprophan dialyzers were used for hemodialysis. Serum B2M levels were significantly lower in the peritoneal dialysis group (mean ± SD 73.2 ± 20.9 mg/L) than in the hemodialysis group (100.3 ± 24.7 mg/L, p < .004). When CAPD patients alone were compared to the hemodialysis patients, lower serum B2M levels were again apparent, with mean 68.7 ± 16.4 mg/L (p ≤ .002). Mean serum B2M in IPD patients (84.6 ± 28.9 mg/L) did not differ statistically from either the CAPD or the hemodialysis group. Peritoneal clearance of B2M, urea nitrogen, and creatinine over a 6 h exchange were obtained in 9 CAPD patients without peritonitis. Mean clearance (±SD) of B2M was 0.9 ± 0.4 ml/min/1.73 m2, urea nitrogen 5.3 ± 0.3 ml/min/1.73 m2, and creatinine 4.2 ± 0.8 ml/min/1.73 m2. Mean loss of B2M via the peritoneal cavity was 19.9 ± 6.6 mg/2 L-exchange/1.73 m2 (range 7.7 to 26.2 mg/2 L-exchange/1.73 m2). Decreased serum B2M in peritoneal dialysis patients is consistent with increased clearance by the peritoneal membrane versus standard cellulosic hemodialysis membranes. Whether use of CPD rather than hemodialysis can prevent or even treat dialysis-associated amyloidosis (AB2M) remains speculative.

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