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• W2125976665 abstract "A 51-year-old man who had been receiving haemodialysis for 15 years was referred to the Toranomon Hospital (Tokyo, Japan) with progressive calcified nodules on his fingers. He had been undergoing haemodialysis three times per week, for a total of 12 h per week. The patient had been deemed to have end-stage renal disease of unknown cause. He had undergone a parathyroidectomy 2 years before the referral because he was believed to have progressive extraskeletal calcification caused by hyperparathyroidism with constant hypercalcaemia that was refractory to medical treatment; laboratory findings were compatible with secondary hyperparathyroidism. Since the parathyroidectomy, laboratory findings had returned to normal, but the nodules had progressed and made him unable to grip. A family history could not be obtained because the patient was an orphan, but through a careful interview we identified a past medical history of recurrent urolithiasis, which was judged to be the leading cause of the end-stage renal disease. Physical examination showed clubbed fingers with exposed calcified masses (figure A). Radiography showed prominent bilateral calcified deposits (figure B) and nephrocalcinosis. Gas chromatography–mass spectrometry-based plasma metabolomic assessment showed substantially increased concentrations of oxalate (316 μmol/L) and glycerate (50·2 μmol/L; normal is <10 μmol/L for both), but glycolate concentration was almost normal at 13·3 μmol/L (normal is <12 μmol/L), suggesting the possibility of primary hyperoxaluria type 2. Genetic analysis showed a missense mutation, 181G→A (Asp61Asn), of GRHPR in exon 2. We therefore diagnosed the patient as having primary hyperoxaluria type 2 and started intensive haemodialysis (25 h per week, Monday to Friday, for 2 years so far) in preparation for renal transplantation. The patient is currently on a waiting list for renal transplantation. Correction to Lancet Diabetes Endocrinol 2015; published online Nov 2. http://dx.doi.org/10.1016/S2213-8587(15)00372-1Yamanouchi M, Ubara Y, Takayama T, Kuhara T, Takaichi K. Calcified nodules on fingers in primary hyperoxaluria type 2. Lancet Diabetes Endocrinol 2015; published online Nov 2. http://dx.doi.org/10.1016/S2213-8587(15)00372-1. The title of this Clinical Picture has been corrected. This correction has been made to the online version as of Nov 9, 2015. Full-Text PDF" @default.
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• W2125976665 date "2016-05-01" @default.
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• W2125976665 title "Calcified nodules on fingers in primary hyperoxaluria type 2" @default.
• W2125976665 doi "https://doi.org/10.1016/s2213-8587(15)00372-1" @default.
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