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Updated: Mar 21, 2026

Measurements of Motor Function and Other Clinical Outcome Parameters in Ambulant Children with Duchenne Muscular Dystrophy
Published on: January 12, 2019
Utility of Cystatin C for Estimating Glomerular Filtration Rate in Patients With Muscular Dystrophy
Koichi Kimura1, Hiroyuki Morita, Masao Daimon
1Department of Cardiovascular Medicine, Graduate School of Medicine, The University of Tokyo.
Insights
Muscular dystrophy patients may have undiagnosed kidney problems. Serum cystatin C accurately estimates kidney function (GFR), aiding early detection and management of renal dysfunction in these individuals.
Area of Science:
- Nephrology
- Cardiology
- Neurology
- Clinical Biochemistry
Background:
- Heart failure, arrhythmia, and sudden death are recognized concerns in muscular dystrophy.
- Renal dysfunction is often overlooked in muscular dystrophy due to low serum creatinine levels.
- Serum cystatin C is a reliable marker for kidney function, independent of muscle mass.
Observation:
- This study presents cases of muscular dystrophy patients where cystatin C-based estimated glomerular filtration rate (eGFRcys) closely matched inulin renal clearance.
- A patient with muscular dystrophy experienced sudden death due to acute heart failure, complicated by underlying renal dysfunction and elevated BNP.
Findings:
- Estimated GFR by cystatin C (eGFRcys) demonstrated good agreement (<20% difference) with measured GFR by inulin clearance in muscular dystrophy patients.
- The findings highlight the potential for cystatin C to serve as a superior marker for renal function assessment in this population.
Implications:
- Neurologists and cardiologists should routinely assess renal function in muscular dystrophy patients using cystatin C-based GFR estimation.
- Early identification of renal dysfunction may improve patient outcomes and prevent complications like acute heart failure.
Abstract:
Emerging concerns regarding heart failure, arrhythmia, and sudden death in patients with muscular dystrophy are of significant clinical importance. On the other hand, little attention has been paid to renal dysfunction because these patients have low serum creatinine levels. Serum cystatin C, unaffected by muscle quantity, is a potentially superior marker for estimating renal function. Here, we present cases with muscular dystrophy in which estimated glomerular filtration rate (GFR) by cystatin C (eGFRcys) provided good agreement with simultaneously measured GFR by inulin renal clearance (differences less than 20%). Sudden death with acute heart failure occurred in a patient with underlying renal dysfunction and elevated BNP. Neurologists and cardiologists should evaluate renal function using GFR with cystatin C in patients with muscular dystrophy.
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