Analysis in the CLCN5 gene in patients with familial idiopathic low-molecular-weight proteinuria.
Nihon Shoni Jinzobyo Gakkai Zasshi, 1998 家族性特発性低分子蛋白尿症 (familial idiopathic low-molecular-weight proteinuria: FILMWP) は，低分子蛋白尿を呈する腎尿細管障害で本邦にて報告された。一方，腎結石症を伴うDent病などの3つの遺伝性腎尿細管障害が欧米で報告され，クロライドチャンネルCLCN5遺伝子の異常であることが報告された。これらの疾患には臨床上の類似性がみられるが，FILMWPでは腎不全やくる病がないことで区別される。 私達はFILMWP患者5例についてCLCN5遺伝子を解析し，一塩基挿入2例，一塩基欠失2例，ナンセンス変異1例を認めた。FILMWPの多くは本遺伝子の異常でおこると考えられ，これら4つの腎尿細管疾患は1つの疾患の亜型と考えられる ...
Hitoshi Nakazato +10 more
openaire +2 more sources
Inflammatory Response as a Mechanism of Perinatal Programming: Long-term Impact on Pulmonary and Renal Function? [PDF]
, 2012 RATIONALE: Temporal changes in the fetal environment, such as malnutrition and placental insufficiency induce intrauterine growth restriction (IUGR) and lead to a permanent changes of physiological processes later in life.
Alejandre Alcázar, Miguel Angel
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Case Report: Early acute kidney failure in an 11-year-old boy with Dent disease type 1
Frontiers in PediatricsDent disease type 1 (Dent 1) is a rare X-linked genetic condition which impacts kidney function and is caused by pathogenic variants in CLCN5.
Nicolette Murphey +4 more
doaj +1 more source
Urine Complement Proteins and the Risk of Kidney Disease Progression and Mortality in Type 2 Diabetes. [PDF]
, 2018 ObjectiveWe examined the association of urine complement proteins with progression to end-stage renal disease (ESRD) or death in people with type 2 diabetes and proteinuric diabetic kidney disease (DKD).Research design and methodsUsing targeted mass ...
Afkarian, Maryam +6 more
core +1 more source
Zdravniški Vestnik, 2017 Dent disease is an x-linked disorder of proximal renal tubular dysfunction that occurs almost exclusively in males. It is characterized by significant, mostly low molecular weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, and ...
Rina R Rus, Kristina Vogrin
doaj
Early onset preeclampsia is characterized by altered placental lipid metabolism and a premature increase in circulating FABP4 [PDF]
, 2010 Preeclampsia is a pregnancy-associated disorder that manifests as a sudden increase in maternal blood pressure accompanied by proteinuria. Because the placenta is a key organ in preeclampsia, we used proteomic and lipidomic analyses to compare placentae ...
Aaron Booy +5 more
core +1 more source
The Comparison of Creatinine and Cystatin C Value in Preeclampsia Severity and Neonatal Outcome [PDF]
, 2016 Objectives: to compare the levels of creatinine and cystatin C with the severity of preeclampsia, and assess neonatal outcomes.Materials and Methods: Creatinine, cystatin C, and neonatal outcomes were assesed in 17 normotensive samples, 17 samples of ...
Wantania, J. (John) +1 more
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Urinary Peptide Levels in Patients with Chronic Renal Failure [PDF]
, 2010 Introduction: Peptide levels in urine are found to be decreased in renal failure. In the current study urinary peptide levels were determined in chronic renal failure (CRF) patients.
M, Supriya +3 more
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Management of Proteinuria in Dogs and Cats with Chronic Kidney Disease [PDF]
, 2016 Atkins +46 more
core +2 more sources
Journal of International Medical ResearchDent disease is a rare disease with proximal renal tubular dysfunction, and is characterized by low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, and chronic kidney disease. Renal failure slowly progresses and end-stage
Youying Mao +4 more
doaj +1 more source