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Background: Lipin-1, encoded by LPIN1 gene, serves as an enzyme and a transcriptional co-regulator to regulate lipid metabolism and mitochondrial respiratory chain. Autosomal recessive mutations in LPIN1 were recognized as one of the most common causes of pediatric recurrent rhabdomyolysis in western countries. However, to date, there were only a few cases reported in Asian group. This study aims to report the first pediatric case of recurrent rhabdomyolysis with a novel LPIN1 mutation in China mainland in order to raise the awareness of both pediatricians and patients.Case Presentations: Here we report a Chinese pediatric case of recurrent rhabdomyolysis with compound heterozygous variants (p.Arg388* and p.Arg810Cys) in the LPIN1 gene. The c.2428C > T was a novel missense variant involved Arg-to-Cys substitution at position 810 (p.Arg810Cys), located in the highly conserved region which predicted to be damaging by multiple algorithms. The patient manifested as cola-colored urine, muscle weakness and tenderness, as well as acute kidney injury with peak blood creatine kinase level 109,570 U/l in 19-month old. In his second episode of 9 years old, the symtoms were relatively milder with peak creatine kinase level 50,948 U/l. He enjoyed quite normal life between the bouts but slightly elevation of serum creatine kinase level during the fever or long-term exercises. Prolonged weight training combined with calorie deprivation were speculated to be the triggers of his illness. Prompt symptomatic therapy including fluid therapy and nutritional support was given and the patient recovered soon.Conclusions: LPIN1-related rhabdomyolysis is still quite new to physicians due to its seemly low-incidence especially in Asian countries. In the future, more active genetic test strategy and detailed prophylactic care education should be taken in patients with severe recurrent rhabdomyolysis, who are the high risk group of LPIN1 genetic defects. [ABSTRACT FROM AUTHOR]

Background: Insulin resistance (IR) is an independent risk factor for atherosclerosis or cardiovascular events and renal function impairment. The aim of this study was to investigate IR in children with primary nephrotic syndrome (NS). Methods: One-hundred and nineteen primary NS patients with normal renal function and 125 normal controls were studied. Fasting blood glucose, fasting serum insulin, and fasting serum C-peptide were measured. The Homa index of insulin resistance (HOMA-IR), Islet B cell function, and insulin sensitivity index were calculated. Correlations were assessed between HOMA-IR, fasting serum C-peptide, blood pressure, blood lipids, renal function, coagulation, clinical disease type, pathology and the early therapeutic effectiveness of high-dose glucocorticoids. Results: There was no evidence of IR in the primary NS group. Although levels of fasting blood glucose, fasting serum insulin and fasting serum C-peptide were all within the normal ranges, fasting serum C-peptide was significantly higher compared to the controls. There was no disorder of carbohydrate metabolism in different hormone therapy efficacy and pathological diagnosis. Although IR was not detected, a significant increase in blood pressure, uric acid, blood lipids and coagulability was observed in the primary NS group. Conclusion: A correlation observed between HOMA-IR, age, blood pressure, serum creatinine (Cr) and triglyceride may suggest that insulin sensitivity will emerge as renal disease progresses. Fasting serum C-peptide levels were increased in the primary NS group, suggesting that fasting serum C-peptide may be a protective factor. [ABSTRACT FROM AUTHOR]

Huang Qi Huai (HQH) granules, a mixture of Chinese herbs, contains trametes robiniophila murr, wolfberry fruit, and Polygonatum. We investigated the mechanism of the protective effects of HQH on adriamycin nephrosis (ADR) in rats. Adriamycin nephrotic rats were induced by a single dose of 5 mg/kg adriamycin. For the HQH-treated adriamycin nephrosis group, 1 day after treatment with 5 mg/kg adriamycin, the rats were administered once-daily oral gavage of 2 mg/kg HQH for 15 days. All the rats were killed at day 15. Histological changes were observed by light microscopy and transmission electron microscope. Nephrin and podocin expression levels were measured by real-time RT-PCR and Western blot. Proteinuria was measured by the Bradford protein assay. Serum TNF-α and IL-1β levels were evaluated by ELISA. Macrophage infiltration was detected by immunohistochemistry and immunoblotting, respectively. ADR rats showed heavy proteinuria, podocyte and tubulointerstitial injury, macrophage infiltration, and increased levels of serum cytokines TNF-α and IL-1β. HQH significantly ameliorated the adriamycin-induced renal injury. These data were validated in the cultured podocytes. The podocytes were treated by adriamycin in the presence or absence of HQH and nephrin and podocin expression and TNF-α and IL-1β synthesis and secretion were determined by real-time RT-PCR, immunoblotting, and ELISA, respectively. Adriamycin significantly reduced nephrin and podocin expression, which was significantly restored by the treatment of HQH. HQH treatment inhibited adriamycin-induced TNF-α and IL-1β expression. Our findings suggest that HQH significantly reduces proteinuria, prevents podocyte injury, and ameliorates tubulointerstitial damage. Inhibition of inflammatory cytokine expression and macrophage infiltration may be the protective mechanism of HQH. [ABSTRACT FROM AUTHOR]