Results 71 to 80 of about 35,907 (209)

Urinary Biomarkers for Kidney Disease in ATTR Amyloidosis [PDF]

, 2014
Aim: The detection and prognosis of nephropathy in transthyretin amyloidosis depends on albuminuria and renal function. Knowing that urinary levels of alpha-1 microglobulin and beta-2 microglobulin reflect tubular dysfunction while urinary alpha-2 ...
Beirão, I., Bravo, F., Lobato, L., Oliveira, J., Rocha, A., Vizcaíno, J.   +5 more
core   +1 more source

Case report: a Chinese girl with dent disease 1 and turner syndrome due to a hemizygous CLCN5 gene mutation and Isochromosome (Xq)

BMC Nephrology, 2020
Background Female Dent disease 1 patients with low-molecular-weight proteinuria (LMWP) due to CLCN5 gene mutation were rarely reported, and these cases that the people were also with Turner syndrome (TS) were even hardly documented before.
Yuhong Ye, Jingjing Wang, Xiaofang Quan, Ke Xu, Haidong Fu, Weiyue Gu, Jianhua Mao   +6 more
doaj   +1 more source

Long-term renal outcome in children with OCRL mutations: retrospective analysis of a large international cohort [PDF]

, 2016
BACKGROUND: Lowe syndrome (LS) and Dent-2 disease (DD2) are disorders associated with mutations in the OCRL gene and characterized by progressive chronic kidney disease (CKD).
Addis, M, Ahn, YH, Anglani, F, Baronio, F, Bockenhauer, D, Bökenkamp, A, Bürger, J, Cheong, HI, Chung, WY, Fonduli, P, Gellermann, J, Gucev, Z, Konrad, M, Kołbuc, M, Krzemień, A, La Manna, A, La Scola, C, Lee, JW, Ludwig, M, Miklaszewska, M, Moczko, J, Niemirska, A, Paglialonga, F, Paripovic, D, Park, SJ, Park, YH, Rogowska-Kalisz, A, Roszak, M, Runowski, D, Rus, R, Said-Conti, V, Sartz, L, Sikora, P, Siteń, G, Stefanidis, CJ, Szczepańska, M, Tasic, V, Wasilewska, A, Zampetoglou, A, Zaniew, M, Załuska-Leśniewska, I, Zurrida, F   +41 more
core   +1 more source

Dent’s disease: case series from a single center

The Turkish Journal of Pediatrics
Background. Dent’s disease (DD) is a rare X-linked recessive tubulopathy characterized by low molecular weight proteinuria, hypercalciuria, nephrocalcinosis/nephrolithiasis and chronic kidney disease.
Hilal Yaşar, Emre Leventoğlu, Bahar Büyükkaragöz, Kibriya Fidan, Sevcan A. Bakkaloğlu, Oğuz Söylemezoğlu   +5 more
doaj   +1 more source

Longitudinal determination of serum placental protein 13 during development of preeclampsia [PDF]

, 2008
Objective: To determine maternal serum placental protein 13 (PP13) in normal pregnancy and preeclampsia. Methods: A prospective, longitudinal study with 41 normal pregnant women, 18 cases with preterm delivery or cervix insufficiency and 4 with ...
Bartz, Clemens, Chefetz, Ilana, Huppertz, Berthold, Meiri, Hamutal, Neumaier-Wagner, Peruka, Sammar, Marei   +5 more
core   +1 more source

Clinical features and genetic analysis of 15 Chinese children with dent disease

Renal Failure
Objective  The clinical characteristics, genetic mutation spectrum, treatment strategies and prognoses of 15 children with Dent disease were retrospectively analyzed to improve pediatricians’ awareness of and attention to this disease.Methods  We ...
Qian Li, Zhenle Yang, Ruixian Zang, Suwen Liu, Lichun Yu, Jing Wang, Cong Wang, Xiaoyuan Wang, Shuzhen Sun   +8 more
doaj   +1 more source

Dent's disease

Orphanet Journal of Rare Diseases, 2010
Dent's disease is a renal tubular disorder characterized by manifestations of proximal tubule dysfunction, including low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure.
Thakker Rajesh V, Devuyst Olivier
doaj   +1 more source

Chemokine receptor CCR1: A new target for progressive kidney disease [PDF]

, 2005
Infiltrating leukocytes are thought to contribute to the progression of kidney disease. Locally produced chemokines guide circulating leukocytes into the kidney, which renders therapeutic blockade of respective chemokine receptors on the leukocyte ...
Anders, Hans-Joachim, Ninichuk, Volha
core   +1 more source

Mutations of CLCN5 in Japanese children with idiopathic low molecular weight proteinuria, hypercalciuria and nephrocalcinosis

Kidney International, 1997
The annual urinary screening of Japanese children above three years of age has identified a progressive renal tubular disorder characterized by low molecular weight proteinuria, hypercalciuria and nephrocalcinosis. The disorder has been observed in over 60 patients and has a familial predisposition.
Akuta, N, Lloyd, SE, Igarashi, T, Shiraga, H, Matsuyama, T, Yokoro, S, Cox, J, Thakker, R   +7 more
openaire   +3 more sources

A role for OCRL in glomerular function and disease [PDF]

, 2019
Background: Lowe syndrome and Dent-2 disease are caused by mutations in the OCRL gene, which encodes for an inositol 5-phosphatase. The renal phenotype associated with OCRL mutations typically comprises a selective proximal tubulopathy, which can ...
Bierzynska, Agnieszka, Lennon, Rachel, Lowe, Martin, Naylor, Richard W., Preston, Rebecca, Saleem, Moin A., Stewart, Graham   +6 more
core   +4 more sources