Results 81 to 90 of about 1,469 (156)

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

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

Long-term recombinant human growth hormone therapy in Dent’s disease type 1

Endokrynologia Polska
Not required for Clinical Vignette.
Miao Huang, Guoqing Dong, Yongmei Zeng, Fan Wu, Peipei Liu, Xiyan Lu   +5 more
doaj   +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

CLCN5 inhibits tumorigenesis and fatty acid accumulation in clear cell renal cell carcinoma by regulating Enoyl CoA hydratase and 3-Hydroxyacyl CoA dehydrogenase. [PDF]

Int J Med Sci
Yu T, Li W, Meng X, Yang W, Ruan H, Xiao W, Zhang X.   +6 more
europepmc   +1 more source

Genetic background of infantile hypophosphatemia: a narrative review. [PDF]

Transl Pediatr
Zeng X, Hu L.
europepmc   +1 more source

Dual-Genetic Etiology in an Atypical Dent Disease Phenotype Which Combines Features of Focal Segmental Glomerulosclerosis and Ellis-Van Creveld-Like Syndrome: A Case Report. [PDF]

Case Rep Nephrol Dial
Del Prete D, Ceol M, Giannella A, Ceolotto G, Sgrò E, Priante G, Fedrigo M, Anglani F, Nalesso F.   +8 more
europepmc   +1 more source

Phenotype and genotype analyses of 21 Chinese patients with Dent disease. [PDF]

J Biomed Res
Che R, Cai Y, Zhou W, Zhao S, Huang S.
europepmc   +1 more source

Bioinformatics analysis of a <i>CLCN5</i> geneframeshift mutation in a patient with Dent disease. [PDF]

Zhong Nan Da Xue Xue Bao Yi Xue Ban
Zhang Y, Li N, Fan L, Liu J.
europepmc   +1 more source

Coexisting genetic kidney disease explains many cases of 'familial' IgA nephropathy where the proband has biopsy-confirmed mesangial IgA deposits. [PDF]

Front Med (Lausanne)
Li Y, Zhang J, Yin ZJ, Zhou Z, Huang B, Mahmood K, Colville D, Barit D, Auwardt R, Fassett R, Paizis K, Ierino F, Pianta T, Langsford D, Huang M, Savige J.   +15 more
europepmc   +1 more source