HOMOZYGOUS VARIEGATE PORPHYRIA PATIENT WITH SEVERE IGA NEPHROPATHY

A 24-year-old patient, whose homozygous form of variegate porphyria was diagnosed early in the childhood, manifested renal insufficiency accompanied by hypertension at the age of 20. Kidney biopsy, which was performed because of haematuria, proteinuria (6gr/d) and increased creatinine value (130-150 umol/l, normal <115) , revealed mesangioproliferative IgA glomerulonephritis. Creatinine value increased rapidly within a few years and the patient became uraemic (s-urea 15-30 mmol/l, normal 3-8.5) and haemoglobin decreased (70 g/l). The patient responded well to iron and erythropoietin therapy (Hb 136 g/l) but microsytosis (MCV 67, MCH 21) did not change. Activities of E-ALADT, E-PBGD, E-UROD and Ly-FECH were normal, but E-COPROX activity was increased (110 pmol, normal 2.2-6.5) and E-FECH was low (2.4 pmol haem/h/E6retic, normal 6-20). The amount of reticulocytes were low (0.1%, normal 0.6-2%). Ly-PPOX has been constantly low (1.5 nmol, normal 3.9-6). He tolerated well a calsium blocker, ACE inhibitor and diuretics and blood pressure has been normal. The skin symptoms such as blistering and fragility lindered slightly with the age but scarring and disfiguration of sun exposed skin have been a constant finding. Mild sensomotor-neuropathy and glaucoma have been stable, and no acute attacks have occurred. Cholecystolithiasis was observed by ultrasound but liver transaminases have been normal. Urinary excretion of porphyrin precursors has been normal throughout the follow-up, and increased urinary excretions of coproporphyrin and uroporphyrin (510 and 83 nmol, normal <230 and <36) normalised (uroporphyrin 27, coproporphyrin 0) as renal impairment proceeded. At the same time E-protoporphyrin level has been increased (8000 nmol/l red cells,  normal 250-1050) as previously but plasma protoporphyrin level has increased 1.5 fold (141-255 nmol/l, normal <2 nmol/l, ratio of  Zn-chelate- and free-protoporphyrin 1.5). Simultaneously faecal excretion of protoporphyrin has diminished to half of the previous  values (670-200 nmol/l). These results indicate that ineffective erythropoiesis  and high circulating protoporphyrin causing photosensitivity are the main findings in this patient and no liver disease is present. Moreover, renal impairment changed the porphyrin profile but has no effect on the patient's porphyric symptoms. Peritoneal dialysis was started a year ago with no effect to the porphyrin profile and cholecystectomy before kidney transplantation is planned.