The zebra among horses: Extensive abnormalities in a kidney biopsy without clinical signs of kidney disease

摘要

A 13-year-old boy presented to the outpatient clinic with a 4-5 year history of cramping pains in the hands and feet. The reported pains were so severe as to force him to lie down and, on occasions, vomit. The pains were intermittent in nature and more common during warm weather and on physical exertion. The patient was well apart from a history of migraines and a period of macroscopic haematuria diagnosed as post-streptococcal glomerulonephritis five years ago. Physical examination revealed some angiokeratomas on the face, thorax and arms. Blood pressure was 112/80 mmHg. Urinalysis (dipstick) was negative, no proteinuria was present (albuminuria < 3 mg/day) and kidney function was normal (serum creatinine 48 mumol/l, estimated glomerular filtration rate 128 ml/min/1.73m~2 (Schwartz formula)). Based on a Google search, the boy's parents suspected Fabry's disease. Cardiac ultrasound, MR brain and audiology testing were normal. Ophthalmoscopy revealed cornea verticillata. A kidney biopsy was performed.