Renal dysfunction is rare in Fukuyama congenital muscular dystrophy

Ishigaki, Keiko; Kato, Ikuko; Murakami, T.; Sato, Takatoshi; Shichiji, M.; Ishiguro, Kiyosuke; Ishizuka, Kiyonobu; Funatsuka, Makoto; Saito, Kayoko; Ōsawa, Makiko; Nagata, Satoru

doi:10.1016/j.braindev.2018.07.012

Cited by 4 publications

(3 citation statements)

References 11 publications

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“…No obvious histological abnormalities appearing even in dystrophin and utrophin double knock out mouse [30] suggesting that reduced renal function in mdx mice is not directly caused by lack of dystrophin. Recently, renal function of other muscular dystrophies has been examined that renal dysfunction is rare in patients with Fukuyama congenital muscular dystrophy [31] but is a common complication in myotonic dystrophy 1 [32,33]. Further studies are needed to compare and to elucidate common causal factors of renal dysfunction in muscular dystrophies.…”

Section: Discussionmentioning

confidence: 99%

Renal involvement in the pathogenesis of mineral and bone disorder in dystrophin-deficient mdx mouse

et al. 2019

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Duchenne muscular dystrophy is a severe muscular disorder, often complicated with osteoporosis, and impaired renal function has recently been featured. We aimed to clarify the involvement of renal function in the pathogenesis of mineral and bone disorder in mdx mice, a murine model of the disease. We clearly revealed renal dysfunction in adult mdx mice, in which dehydration and hypercalcemia were contributed. We also examined the effects of dietary phosphorus (P) overload on phosphate metabolism. Serum phosphate and parathyroid hormone (PTH) levels were significantly increased in mdx mice by dietary P in a dose-dependent manner; however, bone alkaline phosphatase levels were significantly lower in mdx mice. Additionally, bone mineral density in mdx mice were even worsened by increased dietary P in a dose-dependent manner. These results suggested that the uncoupling of bone formation and resorption was enhanced by skeletal resistance to PTH due to renal failure in mdx mice.

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Section: Discussionmentioning

confidence: 99%

Renal involvement in the pathogenesis of mineral and bone disorder in dystrophin-deficient mdx mouse

et al. 2019

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“…Therefore, monitoring and therapy are not only focused on respiratory and cardiovascular complications, but are expanded with focus on renal dysfunction. Although renal dysfunction has been described as rare in some types of neuromuscular diseases (43), other studies mention up to 82% of the patients suffering from renal failure to some extent (44). Low plasma creatinine levels due to muscle breakdown and commonly co-existence of cardiovascular complications, may result in misinterpretation of markers and overestimation of kidney function.…”

Section: Discussionmentioning

confidence: 99%

Kidney Function in Patients With Neuromuscular Disease: Creatinine Versus Cystatin C

et al. 2021

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Background: Accurate measurement of kidney function in patients with neuromuscular disorders is challenging. Cystatin C, a marker not influenced by skeletal muscle degradation, might be of clinical value in these patients.Methods: We consecutively enrolled 39 patients with neuromuscular disorders. We investigated the association of the eGFR, based on plasma creatinine and Cystatin C, with clinical and biochemical variables associated with kidney function, namely age and galectin-3.Results: Creatinine-based eGFR was 242 (±80) and Cystatin C-based eGFR was 110 (±23) mL/min/1.73 m2. Cystatin C-based eGFR was associated with age (β −0.63 p < 0.0001) and galectin-3 levels (β −0.43 p < 0.01), while creatinine-based eGFR was not (β −0.22 p = 0.20; β −0.28 p = 0.10). Sensitivity analyses in Duchenne and Becker patients revealed the same results: Cystatin C-based eGFR was associated with age (β −0.61 p < 0.01) and galectin-3 levels (β −0.43 p = 0.05), while creatinine-based eGFR was not (β −0.32 p = 0.13; β −0.34 p = 0.14).Conclusions: These data indicate that estimation of renal function in patients with neuromuscular disorders cannot reliably be achieved with creatinine, while Cystatin C appears a reasonable alternative. Since a large proportion of patients with neuromuscular disorders develops heart failure, and requires heart failure medication, adequate monitoring of renal function is warranted.

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“…All cells with a nucleus produce cys-C, and in humans it is found in almost all tissues and body fluids. This protein acts as a negative regulator of pro-atherogenic cysteine proteases [124] and is considered as a potential sensitive biomarker of changes in glomerular filtration in the kidneys, SVDs, and MetS [5,[125][126][127][128], because cys-C is a powerful inhibitor of cysteine protease, which plays a pleiotropic role in the pathophysiology of human vessels. Patients with high serum cis-C levels are at the greatest risk of CVDs (even with mild renal dysfunction), and patients with very high serum cis-C levels usually have arterial hypertension, dyslipidemia, high BMI, and higher serum levels of C-reactive protein.…”

Section: Cystatin-cmentioning

confidence: 99%

Valproate-Induced Metabolic Syndrome

Shnayder,

Grechkina,

Trefilova

et al. 2023

Biomedicines

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Valproic acid (VPA) and its salts (sodium calcium magnesium and orotic) are psychotropic drugs that are widely used in neurology and psychiatry. The long-term use of VPA increases the risk of developing adverse drug reactions (ADRs), among which metabolic syndrome (MetS) plays a special role. MetS belongs to a cluster of metabolic conditions such as abdominal obesity, high blood pressure, high blood glucose, high serum triglycerides, and low serum high-density lipoprotein. Valproate-induced MetS (VPA-MetS) is a common ADR that needs an updated multidisciplinary approach to its prevention and diagnosis. In this review, we consider the results of studies of blood (serum and plasma) and the urinary biomarkers of VPA-MetS. These metabolic biomarkers may provide the key to the development of a new multidisciplinary personalized strategy for the prevention and diagnosis of VPA-MetS in patients with neurological diseases, psychiatric disorders, and addiction diseases.

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Renal dysfunction is rare in Fukuyama congenital muscular dystrophy

Cited by 4 publications

References 11 publications

Renal involvement in the pathogenesis of mineral and bone disorder in dystrophin-deficient mdx mouse

Renal involvement in the pathogenesis of mineral and bone disorder in dystrophin-deficient mdx mouse

Kidney Function in Patients With Neuromuscular Disease: Creatinine Versus Cystatin C

Valproate-Induced Metabolic Syndrome

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