Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0020473 (hyperlipidemia)
 15,891 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Minimal change disease (MCD) is a histopathological lesion in the kidney that is most commonly associated with nephrotic syndrome. The majority of the cases are idiopathic. Pathogenesis is not well understood, although T-cell-related mechanisms are implicated. Massive proteinuria leads to hypoalbuminemia, salt retention, disorder of hemostasis, hyperlipidemia and increased susceptibility to infections. Renal biopsy remains the gold standard for diagnosis. MCD is highly responsive to corticosteroids. Other immunosuppressive agents such as cyclophosphamide, cyclosporin, azathioprine and mycophenolate mofetil have been used to treat cases which are resistant to steroids.
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PMID:Minimal change disease: a review. 1719 22

Minimal change nephrotic syndrome (MCNS) is a common progressive renal disorder occurring in childhood that is characterized by alterations of permselectivity at the glomerular capillary wall, resulting in its inability to restrict the urinary loss of protein. Hyperlipidemia (HLP) is not only an important clinical manifestation of MCNS but is also involved in cardiovascular disease and in progressive renal damage. ApoE is a polymorphic protein. Besides modulation of lipid metabolism, apoE can also elevate the sulfate-proteoglycan in glomerular filtration membrane and inhibit the proliferation of mesengial cells. The present study aimed mainly to determine whether genetic polymorphism of apoE is involved in the HLP secondary to childhood MCNS. Genomic DNA was extracted from 250 children diagnosed with MCNS and 200 healthy controls. ApoE genotype was determined by PCR-restriction fragment length polymorphism (RFLP) analysis. The fasting serum lipoprotein (a) [Lp(a)], total cholesterol (TC), triglyceride (TG), high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C), apolipoprotein A1 (apoA1), and apoB were measured. Serum concentrations of Lp(a), TC, TG, HDL-C, nonHDL-C, LDL-C, and apoB were higher in the MCNS than in the control group (P < 0.05). No significant differences in genotypes and alleles frequencies were observed for the apoE Hha I restriction sites in MCNS patients as compared to controls (P > 0.05). No significant differences in serum lipid levels were observed for variant genotypes and alleles of apoE Hha I restriction site in both MCNS and healthy children (P > 0.05). Genetic variation of apoE does not contribute to the lipid abnormalities secondary to childhood MCNS.
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PMID:Genetic variation of apolipoprotein E does not contribute to the lipid abnormalities secondary to childhood minimal change nephrotic syndrome. 1924 Nov 36

Idiopathic nephrotic syndrome (INS) is a multifactorial disease, characterized by proteinuria, hypoalbuminemia, edema and hyperlipidemia. Studies in humans and animal models have associated INS with changes in the immune response. The purpose of this article is to review clinical and experimental findings showing the involvement of the immune response in the pathogenesis of INS. The role of the immune system in INS has been shown by clinical and experimental studies. However, the pattern of immune response in patients with INS is still not clearly defined. Many studies show changes in the dynamics of T lymphocytes, especially the regulatory T cells. Alternatively, there are other reports regarding the involvement of the complement system and B lymphocytes in the pathophysiology of INS. Indeed, none of the immunological biomarkers evaluated were undeniably linked to changes in glomerular permeability and proteinuria. On the other hand, some studies suggest a link between urinary chemokines, such as IL-8/CXCL8 and MCP-1/CCL2, and changes in glomerular permeability and/or the deterioration of glomerulopathies. To understand the pathophysiology of INS, longitudinal studies are clearly needed. The characterization of the profile of the immune response might help the development of specific and individualized therapies, leading to clinical improvement and better prognosis.
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PMID:The role of the immune system in idiopathic nephrotic syndrome: a review of clinical and experimental studies. 2412 75

Nephrotic syndrome is characterized by edema, proteinuria, hypoalbuminemia, and hyperlipidemia. Minimal change disease, the most common cause in childhood, generally responds to corticosteroids, although most patients experience disease relapses. Focal segmental glomerulosclerosis is usually resistant to corticosteroids and carries a significant risk of kidney failure, necessitating renal transplantation. Nephrotic syndrome may also be secondary to gene mutations and systemic diseases such as lupus. Clinical evaluation involves distinguishing primary and secondary causes and monitoring for disease complications, including blood clots and serious infections such as spontaneous bacterial peritonitis. Immunosuppressive medications are used to prevent relapses and treat corticosteroid-resistant disease.
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PMID:Nephrotic Syndrome. 3045 52