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Lack of efficacy: case report A 5-year-old girl exhibited lack of efficacy during treatment with prednisolone and enalapril for nephrotic syndrome secondary to genetic focal segmental glomerulosclerosis (FSGS) and protenuria, respectively [not all dosages and routes stated]. The girl, who had mild global developmental delays with poor postnatal growth, exhibited proteinuria at the age of 1 year. At the age of 3 years and 11 months, she was diagnosed with nephrotic syndrome. Subsequently, she developed prominent oedema due to severe hypoalbuminemia. At the age of 4 years, she had an episode of autoimmune encephalitis. At the age of 5 years, she developed recurrent aspiration pneumonia and underwent gastrostomy. She was eventually diagnosed with MIRAGE syndrome with a genetic mutation of a novel SAMD9 variant (c.4615 T>A, p.LEu1539Ile). She was diagnosed with FSGS with immune deposits. It was suspected that the nephrotic syndrome was a result of genetic FSGS. Thus, she started receiving oral prednisolone 60 mg/m2/day for the nephrotic syndrome. However, prednisolone treatment was found to be ineffective. Eventually, she was diagnosed with steroidresistant nephrotic syndrome (SRNS). The girl’s treatment with prednisolone was therefore switched to enalapril to reduce the proteinuria. However, a urinalysis revealed heavy proteinuria (5 g/g creatinine) without haematuria, indicating lack of efficacy to enalapril. At the last observation, the renal function was normal (serum creatinine level of 0.34 mg/dL and estimated glomerular filtration rate of 104 mL/min/1.73m2) with mildly decreased serum albumin levels (2.9 g/dL) and persisting proteinuria (5.4 g/g Cr) under enalapril treatment (lack of efficacy). Ishiwa S, et al. A girl with MIRAGE syndrome who developed steroid-resistant nephrotic syndrome: A case report. BMC Nephrology 21: 12 Aug 2020. Available from: URL: 803505037 http://doi.org/10.1186/s12882-020-02011-4

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Reactions 3 Oct 2020 No. 1824