Diabetic polyneuropathy as a mask of acute intermittent porphyria in a middle-aged woman

Introduction. Porphyrias are a group of metabolic diseases caused by hereditary defects in the enzymatic system of heme biosynthesis. According to the modern classification porphyrias are considered independent diseases, which are caused by specific enzymatic defects, resulting in certain disorders of porphyrin metabolism and peculiarities of the clinical course of the disease. Acute intermittent porphyria (AIP) occupies a special position in the group of hepatic porphyrias by its biochemical and clinical features and unfavorable prognosis. Materials and Methods. We present a brief review of the literature on the problem of AIP and our own clinical case report. А 49-year-old female patient P. with type 2 diabetes mellitus, was followed by internists, endocrinologists, neurologists for about 8-10 years. She was repeatedly hospitalized in specialized departments and underwent complex examination. Results. During the follow-up the patient experienced increasing abdominal pain and numbness in the upper and lower extremities, and gait disturbance. Pink-colored urine was observed. A porphyrin metabolism disorder was suggested. Verification of AIP was performed by quantitative determination of the excretory profile of porphyrins. Elevation of porphyrin precursors (δ-aminolevulinic acid and porphobilinogen) are the main criteria for confirming diagnosis. Conclusion. When analyzing the cause of AIP manifestation, it was found that due to concomitant pathologies the patient has been exposed to a number of drugs with porphyrinogenic effect. In addition, the symptoms of AIP were probably masked by manifestations of diabetic gastropathy and polyneuropathy.

Porphyria, acute intermittent porphyria, diabetic polyneuropathy, δ-aminolevulinic acid, porphobilinogen

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