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Measurements of Motor Function and Other Clinical Outcome Parameters in Ambulant Children with Duchenne Muscular Dystrophy
Published on: January 12, 2019
Kidney involvement and associated risk factors in children with Duchenne muscular dystrophy
Muhammet Gültekin Kutluk1, Çağla Serpil Doğan2
1Department of Pediatrics, Division of Pediatric Neurology, Antalya Training and Research Hospital, 07059, Antalya, Turkey.
Insights
Pediatric Duchenne muscular dystrophy (DMD) patients show early signs of kidney issues, including hypertension and abnormal urine composition. Elevated cystatin C levels correlate with muscle damage markers, suggesting a risk of chronic kidney impairment in these children.
Area of Science:
- Pediatric Nephrology
- Neuromuscular Disorders
- Clinical Biochemistry
Background:
- Kidney dysfunction is a known complication in adult Duchenne muscular dystrophy (DMD) patients.
- Kidney function in pediatric DMD patients has been understudied.
- This study investigates kidney function in children and adolescents with DMD.
Purpose of the Study:
- To assess kidney function in pediatric patients with Duchenne muscular dystrophy.
- To identify potential markers and risk factors for kidney impairment in this population.
- To establish baseline data for future longitudinal studies.
Main Methods:
- Retrospective review of medical records for 44 pediatric DMD patients (aged 5-18 years) with over 12 months of follow-up.
- Evaluation of blood pressure via 24-hour ambulatory monitoring.
- Analysis of 24-hour urine samples for proteinuria, calciuria, and phosphaturia.
- Measurement of serum cystatin C (CysC), creatinine (Cr), creatine kinase (CK), and parathormone (PTH) levels.
Main Results:
- Hypertension detected in 32.1% of patients, with 87.5% on steroid therapy.
- Abnormalities in urine composition included mild proteinuria (8.3%), hypercalciuria (13.9%), hypocalciuria (19.7%), and hyperphosphaturia (16.7%).
- Elevated cystatin C (CysC) showed positive correlations with creatinine (Cr), creatine kinase (CK), and parathormone (PTH), with higher CysC levels linked to increased CK, PTH, and Cr.
Conclusions:
- Pediatric DMD patients exhibit various kidney function abnormalities, including hypertension and altered urine composition.
- Elevated cystatin C may serve as an indicator of kidney stress in pediatric DMD.
- Long-term exposure to muscle breakdown products could increase the risk of chronic kidney impairment in pediatric DMD patients.
Background:
Kidney dysfunction is a common complication in adults with Duchenne muscular dystrophy (DMD); however, little attention has been paid to kidney function in pediatric patients.
Methods:
Medical records of patients with DMD who were followed up for ≥ 12 months were retrospectively reviewed. Inclusion criteria were (i) aged 5-18 years, (ii) proven mutations in the dystrophin gene, and (iii) absence of structural anomalies of the kidney and urinary tract. Serum creatine kinase (CK) was used as an indirect marker of muscle destruction.
Results:
Forty-four patients (mean age, 10.9 ± 3.3 years) were included. Blood pressure was evaluated by 24-h ambulatory blood pressure monitoring in 28 patients. Hypertension was found in 9 (32.1%), eight of whom were using steroids. Mild proteinuria, hypercalciuria, hypocalciuria, and hyperphosphaturia in 24-h urine collection (n = 36) were detected in 3 (8.3%), 5 (13.9%), 7 (19.7%), and 6 (16.7%) patients, respectively. Twenty-one (58.3%) demonstrated hyperuricosuria, associated with hyperuricemia in 4. Logarithmic cystatin C (CysC) had a positive correlation to creatinine (Cr) (p = 0.001, r = 0.54), CK (p = 0.048, r = 0.30), and parathormone (PTH) (p = 0.001, r = 0.49). Moreover, the patients were divided into two groups according to median CysC value: group 1 (n = 20, CysC ≤ 0.76 mg/l) and group 2 (n = 24, CysC > 0.76 mg/l). Mean CK, PTH, and Cr levels were significantly elevated in group 2 compared with group 1 (p = 0.010, 0.033, and 0.023, respectively).
Conclusions:
Long-term exposure to the excessive burden of intracellular components released from damaged muscles may be associated with an increased risk over time of chronic kidney impairment in pediatric DMD patients. Graphical abstract.
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