Results 41 to 50 of about 35,907 (209)

Dent Disease 1 Presented Early with Bartter-Like Syndrome Features and Rickets: A Case Report

Case Reports in Nephrology and Dialysis
Introduction: Dent disease (DD) is characterized by a triad of low-molecular-weight proteinuria, hypercalciuria, and nephrocalcinosis/nephrolithiasis.
Cahyani Gita Ambarsari, Habibah Azzahra Putri Agianda, Meilania Saraswati, Jon Jin Kim   +3 more
doaj   +1 more source

Effect of growth hormone replacement therapy in a boy with Dent's disease: a case report

Journal of Medical Case Reports, 2011
Introduction Dent's disease is an X-linked recessive proximal tubulopathy characterized by low molecular weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis and progressive renal failure.
Ludwig Michael, Pavicevic Snezana, Samardzic Mira, Bogdanovic Radovan   +3 more
doaj   +1 more source

Characterization of pre-mRNA Splicing Defects Caused by CLCN5 and OCRL Mutations and Identification of Novel Variants Associated with Dent Disease

Biomedicines, 2023
Dent disease (DD) is an X-linked renal tubulopathy characterized by low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis and progressive renal failure.
Glorián Mura-Escorche, Ana Perdomo-Ramírez, Elena Ramos-Trujillo, Carmen Jane Trujillo-Frías, Félix Claverie-Martín   +4 more
doaj   +1 more source

Upregulation of Transglutaminase andε(γ-Glutamyl)-Lysine in the Fisher-Lewis Rat Model of Chronic Allograft Nephropathy [PDF]

, 2014
Background. Tissue transglutaminase (TG2), a cross-linking enzyme, modulates deposition of extracellular matrix protein in renal fibrosis. This study aimed to examine TG2 and its cross-link product ε(γ-glutamyl)-lysine in the Fisher-Lewis rat renal ...
Butt, Imran, Da Silva, Michelle, Haylor, John, Johnson, Timothy, Raftery, Andrew, Sanchez-Lara, Armando, Shrestha, Badri, Wagner, Bart   +7 more
core   +3 more sources

Chloride channel CLCN5 mutations in Japanese children with familial idiopathic low molecular weight proteinuria [PDF]

Kidney International, 1999
Familial idiopathic low molecular weight proteinuria (FILMWP) is a renal proximal tubulopathy characterized by mild proteinuria consisting of low molecular weight proteinuria and relatively conserved renal function in young patients, but without rickets.
Nakazato, Hitoshi, Yoshimuta, Junichiro, Karashima, Shinnyo, Matsumoto, Shinichi, Endo, Fumio, Matsuda, Ichiro, Hattori, Shinzaburo   +6 more
openaire   +2 more sources

A Case of Dent Disease in Children Presenting with Massive Proteinuria

罕见病研究
This article reported the diagnosis and treatment of a boy with Dent disease presenting with massive proteinuria.He was 3 years old and found to have massive proteinuria during routine physical examination without hypoalbuminemia, urine protein ...
LI Huarong, CHEN Chaoying, TU Juan, WAN Ling   +3 more
doaj   +1 more source

Screening for CLCN5 mutation in renal calcium stone formers patients

Anais da Academia Brasileira de Ciências, 2005
Thirty-five patients (23 males and 12 females), age 35 ± 13 years old, presenting either idiopathic calcium nephrolithiasis, nephrocalcinosis or mild renal failure with idiopathic calcium nephrolithiasis were selected for the analysis of low ...
Maria Alice P. Rebelo, Vera Tostes, Nordeval C. Araújo, Sabrina V. Martini, Bruno F. Botelho, William B. Guggino, Marcelo M. Morales   +6 more
doaj   +1 more source

First reported case of Dent Disease Type 2 in a Trisomy 21 child

Rare
Dent disease is an X-linked recessive proximal tubulopathy predominantly affecting male children with a classic triad of low molecular weight proteinuria, hypercalciuria and nephrocalcinosis.
Hasani Hewavitharana, Randula Ranawaka, Vajira H.W. Dissanayake   +2 more
doaj   +1 more source

Serum Free Light Chains Removal by HFR Hemodiafiltration in Patients with Multiple Myeloma and Acute Kidney Injury. a Case Series [PDF]

, 2018
Background/Aims: Multiple myeloma (MM) represents 10% of all haematologic malignancies. Renal involvement occurs in 50% of MM patients; of them, 12-20% have acute kidney injury (AKI), with 10% needing dialysis at presentation. While hemodialysis (HD) has
Antolino, Giusy, Festuccia, Francescaromana, Fofi, Claudia, Giammarioli, Elisa, La Verde, Giacinto, Mene, Paolo, Punzo, Giorgio, Tafuri, Agostino   +7 more
core   +2 more sources

Treatment of proteinuria with low-molecular-weight heparin after renal transplantation

Transplant International, 2004
The development of nephrotic-range proteinuria after renal transplantation is an unfavourable prognostic factor for graft survival. In contrast to that in other nephropathies, the role of renin-angiotensin blockade in kidney transplantation is less well defined, and its anti-proteinuric effect is markedly reduced in the presence of segmental ...
Stefan, Krzossok, Rainer, Birck, Hannes, Koeppel, Peter, Schnülle, Rüdiger, Waldherr, Fokko J, van der Woude, Claude, Braun   +6 more
openaire   +2 more sources