Results 31 to 40 of about 20,236 (164)

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

Mutations in CLCN5 chloride channel in Japanese patients with low molecular weight proteinuria. [PDF]

Journal of the American Society of Nephrology, 1998
Mutations in the CLCN5 gene have been demonstrated in three disorders of hypercalciuric nephrolithiasis, i.e., Dent's disease, X-linked recessive nephrolithiasis, and X-linked recessive hypophosphatemic rickets. Recently, a number of Japanese children with low molecular weight proteinuria (LMWP) showing symptoms similar to those shown by patients with ...
T, Morimoto, S, Uchida, H, Sakamoto, Y, Kondo, H, Hanamizu, M, Fukui, Y, Tomino, N, Nagano, S, Sasaki, F, Marumo   +9 more
openaire   +2 more sources

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

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

Dent-2 disease with a Bartter-like phenotype caused by the Asp631Glu mutation in the OCRL gene

BMC Nephrology, 2022
Background Dent disease is an X-linked disorder characterized by low molecular weight proteinuria (LMWP), hypercalciuria, nephrolithiasis and chronic kidney disease (CKD).
Eleni Drosataki, Sevasti Maragkou, Kleio Dermitzaki, Ioanna Stavrakaki, Dimitra Lygerou, Helen Latsoudis, Christos Pleros, Ioannis Petrakis, Ioannis Zaganas, Kostas Stylianou   +9 more
doaj   +1 more source

Clinical and CLCN5 genetic mutation analysis of Dent’s disease in children

Linchuang shenzangbing zazhi, 2017
Objective Dent disease is a rare X-linked recessive renal tubular disease.This study aimed to enhance the recognition of dent disease by exploring the clinical characteristics and genetic features.Methods Methods The clinical data of 3 children with Dent
CHEN Guo-qiang, ZHANG Xiao-ge, LI Zhi-juan, CHENG Yin-ping   +3 more
doaj  

Clinical and biochemical characteristics of patients with renal tubular acidosis in Southern part of West Bengal, India: A retrospective study

Indian Journal of Endocrinology and Metabolism, 2021
Purpose of the Study: Reversible proximal tubular dysfunction associated with distal renal tubular acidosis (dRTA) mimics type 3 RTA, a condition classically associated with features of both proximal RTA (pRTA) and dRTA.
Partha Pratim Chakraborty, Rana Bhattacharjee, Shinjan Patra, Ajitesh Roy, Kripasindhu Gantait, Subhankar Chowdhury   +5 more
doaj   +1 more source

Urinary Podocyte Excretion Predicts Urinary Protein Selectivity and Renal Prognosis

International Journal of Nephrology, 2022
Background. Urinary podocyte excretion is related to a reduction in glomerular podocyte numbers, glomerulosclerosis, and urinary protein selectivity.
Makoto Abe, Akiko Kaiga, Takehiro Ohira, Toshihiko Ishimitsu, Akihiro Tojo   +4 more
doaj   +1 more source