Kidney disease in acute intermittent porphyria: histological features and therapeutic perspectives

Excerpt

Patient 1, a 33-year-old woman, was referred to our Unit in November 2018. The patient suffered from recurrent abdominal pain starting from menarche. The crises were not regularly connected with menstrual cycles. During the acute crises, this pain irradiated to the lumbar regions, then downwards and up to the labia majora. It was associated with nausea, vomiting, constipation, paraesthesia, muscle contractions with claw hands, tachycardia, marked asthenia, anxiety and irritability, and bright red urine. At the age of 32, the right salpinx was removed laparoscopically due to intestinal inflammation and adhesion. Upon discharge, tetra-hyposthenia appeared with axonal motor neuropathy observed on electromyography. Following the recommendations of the neurology team, delta-aminolevulinic acid (ALA: 28.9 mg/l–NV 0.00–5.00) and porphobilinogen (PBG: 64.16 mg/l–NV 0.00–2.00) were dosed. The patient was referred to a general hospital in Northern Italy, where she received hemin for 3 consecutive days as a life-saving drug for acute intermittent porphyria, resulting in improvement of her general conditions. In that setting, altered kidney function (sCr 2 mg/dl, estimated glomerular filtration rate [eGFR] [CKD-EPI] 32.1 ml/min/1.73m²) was detected. …