Dataset Information

Nephrolithiasis related to inborn metabolic diseases.

ABSTRACT: Nephrolithiasis associated with inborn metabolic diseases is a very rare condition with some common characteristics: early onset of symptoms, family history, associated tubular impairment, bilateral, multiple and recurrent stones, and association with nephrocalcinosis. The prognosis of such diseases may lead to life threatening conditions, not only because of unabated kidney damage but also because of progressive extra-renal involvement, either in a systemic form (e.g. primary hyperoxaluria type 1, requiring combined liver and kidney transplantation), or in a neurological form (Lesch-Nyhan syndrome leading to auto-mutilation and disability, phosphoribosyl pyrophosphate synthetase superactivity, which is associated with mental retardation). Patients with other inborn metabolic diseases present only with recurrent stone formation, such as cystinuria, adenine phosphoribosyl-transferase deficiency, xanthine deficiency. Finally, nephrolithiasis may be secondarily part of some other metabolic diseases, such as glycogen storage disease type 1 or inborn errors of metabolism leading to Fanconi syndrome (nephropathic cystinosis, tyrosinaemia type 1, fructose intolerance, Wilson disease, respiratory chain disorders, etc.). The diagnosis is based on highly specific investigations, including crystal identification, biochemical analyses and DNA study. The treatment of nephrolithiasis requires hydration as well as specific measures. Compliance is a major issue regarding the progression of renal damage, but the overall outcome mainly depends on extra-renal involvement in relation to the metabolic defect.

SUBMITTER: Cochat P

PROVIDER: S-EPMC2810370 | biostudies-literature | 2010 Mar

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Nephrolithiasis related to inborn metabolic diseases.

Cochat Pierre P Pichault Valérie V Bacchetta Justine J Dubourg Laurence L Sabot Jean-François JF Saban Christine C Daudon Michel M Liutkus Aurélia A

Pediatric nephrology (Berlin, Germany) 20090121 3

Nephrolithiasis associated with inborn metabolic diseases is a very rare condition with some common characteristics: early onset of symptoms, family history, associated tubular impairment, bilateral, multiple and recurrent stones, and association with nephrocalcinosis. The prognosis of such diseases may lead to life threatening conditions, not only because of unabated kidney damage but also because of progressive extra-renal involvement, either in a systemic form (e.g. primary hyperoxaluria type ...[more]

PMID: 19156444

Similar Datasets

Project description:BACKGROUND AND OBJECTIVES:Kidney stones are associated with future development of hypertension, diabetes, and the metabolic syndrome. Our objective was to assess whether stone formation before pregnancy was associated with metabolic and hypertensive complications in pregnancy. We hypothesized that stone formation is a marker of metabolic disease and would be associated with higher risk for maternal complications in pregnancy. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS:We conducted a retrospective cohort study of women who delivered infants at the Massachusetts General Hospital from 2006 to 2015. Women with abdominal imaging (computed tomography or ultrasound) before pregnancy were included in the analysis. Pregnancy outcomes in women with documented kidney stones on imaging (stone formers, n=166) were compared with those of women without stones on imaging (controls, n=1264). Women with preexisting CKD, hypertension, and diabetes were excluded. RESULTS:Gestational diabetes and preeclampsia were more common in stone formers than nonstone formers (18% versus 6%, respectively; P<0.001 and 16% versus 8%, respectively; P=0.002). After multivariable adjustment, previous nephrolithiasis was associated with higher risks of gestational diabetes (adjusted odds ratio, 3.1; 95% confidence interval, 1.8 to 5.3) and preeclampsia (adjusted odds ratio, 2.2; 95% confidence interval, 1.3 to 3.6). Infants of stone formers were born earlier (38.7±2.0 versus 39.2±1.7 weeks, respectively; P=0.01); however, rates of small for gestational age offspring and neonatal intensive care admission were similar between groups (8% versus 7%, respectively; P=0.33 and 10% versus 6%, respectively; P=0.08). First trimester body mass index significantly influenced the association between stone disease and hypertensive complications of pregnancy: in a multivariable linear regression model, stone formation acted as an effect modifier of the relationship between maximum systolic BP in the third trimester and body mass index (P interaction <0.001). CONCLUSIONS:In women without preexisting diabetes, hypertension, and CKD, a history of nephrolithiasis was associated with gestational diabetes and hypertensive disorders of pregnancy, especially in women with high first trimester body mass index.

Project description:Recent advances in aging research have provided novel insights for the development of senotherapy, which utilizes cellular senescence as a therapeutic target. Cellular senescence is involved in the pathogenesis of various chronic diseases, including metabolic and respiratory diseases. Senotherapy is a potential therapeutic strategy for aging-related pathologies. Senotherapy can be classified into senolytics (induce cell death in senescent cells) and senomorphics (ameliorate the adverse effects of senescent cells represented by the senescence-associated secretory phenotype). Although the precise mechanism has not been elucidated, various drugs against metabolic diseases may function as senotherapeutics, which has piqued the interest of the scientific community. Cellular senescence is involved in the pathogenesis of chronic obstructive pulmonary disease (COPD) and idiopathic pulmonary fibrosis (IPF), which are aging-related respiratory diseases. Large-scale observational studies have reported that several drugs, such as metformin and statins, may ameliorate the progression of COPD and IPF. Recent studies have reported that drugs against metabolic diseases may exert a pharmacological effect on aging-related respiratory diseases that can be different from their original effect on metabolic diseases. However, high non-physiological concentrations are needed to determine the efficacy of these drugs under experimental conditions. Inhalation therapy may increase the local concentration of drugs in the lungs without exerting systemic adverse effects. Thus, the clinical application of drugs against metabolic diseases, especially through an inhalation treatment modality, can be a novel therapeutic approach for aging-related respiratory diseases. This review summarizes and discusses accumulating evidence on the mechanisms of aging, as well as on cellular senescence and senotherapeutics, including drugs against metabolic diseases. We propose a developmental strategy for a senotherapeutic approach for aging-related respiratory diseases with a special focus on COPD and IPF.

Dataset Information

Nephrolithiasis related to inborn metabolic diseases.

Publications

Nephrolithiasis related to inborn metabolic diseases.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets