Mammalian Target of Rapamycin and Autosomal Dominant Polycystic Kidney Disease
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Sirolimus
Renal replacement therapy
Nephrology
Autosomal dominant polycystic kidney disease (ADPKD) is the most frequent inherited kidney disease,its prevalence ranges from 1 in 1 000 to 1 in 400.Two genes responsible for ADPKD, PKD 1 and PKD 2,were cloned in 1994 and 1996 respectively. Many researches have been done and great progress has been made on ADPKD.Current hot issues in this area included the structures and functions of polycystin 1 and polycystin 2,the role of cilia on polycystic kidney disease(PKD),the relationship between polycystins and the vascular abnormalities,the image evaluation of PKD,the effects of blocking RAS on slowing down the PKD progression and the treatment prospects for ADPKD. This paper focused on some issues and their implications for the diagnosis and treatment of PKD.
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Renal replacement therapy
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Renal replacement therapy
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Sirolimus
Lymphoproliferative Disorders
Everolimus
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Abstract Sirolimus (Rapamune), a mammalian target of Rapamycin (mTOR) inhibitor, which has been used extensively in children following solid organ transplantation, has been demonstrated to have anti‐angiogenic activity in pre‐clinical models. Limited experience suggests that it may have application to the treatment of vascular lesions. We describe our experience with a 1‐year‐old female with a kaposiform hemangioendothelioma and Kasabach–Merritt phenomenon who had rapid and dramatic response to sirolimus (0.1 mg/kg/day). This case provides further rationale for clinical trials of sirolimus in the treatment of vascular lesions. Pediatr Blood Cancer. 2010;55:1396–1398. © 2010 Wiley‐Liss, Inc.
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Blood cancer
Hemangioendothelioma
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Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by a mutation in either of the two tumor suppressor genes, TSC1 and TSC2 . Due to dysregulated activity of the mammalian target of rapamycin (mTOR) pathway, hamartomas or benign tumors frequently occur in many organs and are often treated with mTOR inhibitors. Hemihypertrophy is a rare complication of TSC. Although not being a tumor, progressive overgrowth of the affected limb may cause cosmetic and functional problems, for which the efficacy of mTOR inhibitors has not been reported previously. We herein report a case of TSC-associated hemihypertrophy. In this case, genetic studies revealed TS C 1 loss of heterozygosity as the cause of hemihypertrophy. Clinically, pharmacological treatment with an mTOR inhibitor sirolimus successfully ameliorated cosmetic and functional problems with no intolerable adverse effects.
Hemihypertrophy
Sirolimus
TSC1
TSC2
Genetic disorder
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