Treatable renal failure found in non-ambulatory Duchenne muscular dystrophy patients

Motoki, Takayuki; Shimizu‐Motohashi, Yuko; Komaki, Hirofumi; Mori‐Yoshimura, Madoka; Oya, Yasushi; Takeshita, Eri; Ishiyama, Akihiko; Saito, Takashi; Nakagawa, Eiji; Sugai, Kenji; Murata, Miho; Sasaki, Masayuki

doi:10.1016/j.nmd.2015.07.006

Cited by 20 publications

(21 citation statements)

References 18 publications

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“…108 Adequate fluid intake should be emphasised, to prevent dehydration, which increases the risk of constipation and renal dysfunction. 109 Panel 3 offers a general nutritional plan for people with DMD. 110 …”

Section: Gastrointestinal and Nutritional Managementmentioning

confidence: 99%

Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management

Birnkrant

Bushby

Bann

et al. 2018

The Lancet Neurology

828

1,080

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Since the publication of the Duchenne muscular dystrophy (DMD) care considerations in 2010, multidisciplinary care of this severe, progressive neuromuscular disease has evolved. In conjunction with improved patient survival, a shift to more anticipatory diagnostic and therapeutic strategies has occurred, with a renewed focus on patient quality of life. In 2014, a steering committee of experts from a wide range of disciplines was established to update the 2010 DMD care considerations, with the goal of improving patient care. The new care considerations aim to address the needs of patients with prolonged survival, to provide guidance on advances in assessments and interventions, and to consider the implications of emerging genetic and molecular therapies for DMD. The committee identified 11 topics to be included in the update, eight of which were addressed in the original care considerations. The three new topics are primary care and emergency management, endocrine management, and transitions of care across the lifespan. In part 1 of this three-part update, we present care considerations for diagnosis of DMD and neuromuscular, rehabilitation, endocrine (growth, puberty, and adrenal insufficiency), and gastrointestinal (including nutrition and dysphagia) management.

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Section: Gastrointestinal and Nutritional Managementmentioning

confidence: 99%

Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management

Birnkrant

Bushby

Bann

et al. 2018

The Lancet Neurology

828

1,080

View full text Add to dashboard Cite

show abstract

“…[39] ). Importantly, hyperfiltration was already reported in DMD patients [22] and kidney failure was observed in older DMD patients [40,41] . The presence of kidney injury was also described in the mdx mouse [42] .…”

Section: Discussionmentioning

confidence: 82%

“…The presence of kidney injury was also described in the mdx mouse [42] . Many factors including dehydration, use of high doses of diuretics or fluid intake reduction are known to accelerate renal failure in DMD patients [40,41] . Our results indicate that modified renal iron metabolism could be a component of kidney failure process.…”

Section: Discussionmentioning

confidence: 99%

High urinary ferritin reflects myoglobin iron evacuation in DMD patients

Rouillon

Lefèbvre

Denard

et al. 2018

Neuromuscular Disorders

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Duchenne muscular dystrophy (DMD) is an X-linked disease caused by mutations in the dystrophin gene leading to the absence of the normal dystrophin protein. The efforts of many laboratories brought new treatments of DMD to the reality, but ongoing and forthcoming clinical trials suffer from absence of valuable biomarkers permitting to follow the outcome of the treatment day by day and to adjust the treatment if needed. In the present study the levels of 128 urinary proteins including growth factors, cytokines and chemokines were compared in urine of DMD patients and age related control subjects by antibody array approach. Surprisingly, statistically significant difference was observed only for urinary ferritin whose level was 50 times higher in young DMD patients. To explain the observed high urinary ferritin content we analysed the levels of iron, iron containing proteins and proteins involved in regulation of iron metabolism in serum and urine of DMD patients and their age-matched healthy controls. Obtained data strongly suggest that elevated level of urinary ferritin is functionally linked to the renal management of myoglobin iron derived from leaky muscles of DMD patients. This first observation of the high level of ferritin in urine of DMD patients permits to consider this protein as a new urinary biomarker in muscular dystrophies and sheds light on the mechanisms of iron metabolism and kidney functioning in DMD.

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“…It is unknown what mechanism underlies the significant (p G 0.05) difference in the kidney uptake between the groups, although recent macro-and microscopic examinations of kidneys in mdx mice found microhemorrhages and reduced urine spaces compared with the control animals [20]. Renal impairment is being increasingly recognized in patients with DMD [21,22] and more detailed examination of renal histopathology in mdx mice is warranted in future studies.…”

Section: Discussionmentioning

confidence: 99%

SPECT Imaging of Muscle Injury with [99mTc]MDP in a Mouse Model of Muscular Dystrophy

et al. 2019

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Purpose: Tc-99m methylene diphosphonate ([ 99m Tc]MDP) is an in vivo bone imaging agent that also accumulates in injured skeletal muscle cells. The objective of this study was to investigate if [ 99m Tc]MDP could be used to detect muscle injury in the mdx mouse model of Duchenne muscular dystrophy (DMD). Procedures: Static whole-body single-photon emission computed tomography/computed tomography (CT) scans were acquired at 2 h post-injection of [ 99m Tc]MDP in two cohorts of animals at different sites: one cohort of mice at 6, 15, and 19 weeks of age, and a separate cohort at 16 weeks. The second cohort was also imaged with high-resolution CT at 8 weeks. Results: mdx mice had higher [ 99m Tc]MDP uptake and significantly higher [ 99m Tc]MDP concentrations in muscle than controls. Conclusions: Higher uptake of [ 99m Tc]MDP in muscle of mdx mice agrees with histological reports of muscle calcification in mdx mice, and suggests the potential translational use of [ 99m Tc]MDP imaging for tracking DMD progression and therapeutic response.

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Treatable renal failure found in non-ambulatory Duchenne muscular dystrophy patients

Cited by 20 publications

References 18 publications

Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management

Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management

High urinary ferritin reflects myoglobin iron evacuation in DMD patients

SPECT Imaging of Muscle Injury with [99mTc]MDP in a Mouse Model of Muscular Dystrophy

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