scholarly journals Mutations in the CLCN5 gene in Japanese patients with familial idiopathic low-molecular-weight proteinuria

1997 ◽  
Vol 52 (4) ◽  
pp. 895-900 ◽  
Author(s):  
Hitoshi Nakazato ◽  
Shinzaburo Hattori ◽  
Akio Furuse ◽  
Tomoyasu Kawano ◽  
Shinnyo Karashima ◽  
...  
Keyword(s):  
Molecular Weight ◽  
Japanese Patients ◽  
Low Molecular Weight ◽  
Clcn5 Gene ◽  
Low Molecular Weight Proteinuria

scholarly journals Analysis in the CLCN5 gene in patients with familial idiopathic low-molecular-weight proteinuria.

1998 ◽  
Vol 11 (2) ◽  
pp. 177-180
Author(s):  
Hitoshi Nakazato ◽  
Shinzaburo Hattori ◽  
Junichiro Yoshimuta ◽  
Akio Furuse ◽  
Shinnyo Karashima ◽  
...  
Keyword(s):  
Molecular Weight ◽  
Low Molecular Weight ◽  
Clcn5 Gene ◽  
Low Molecular Weight Proteinuria

scholarly journals Mutations in CLCN5 chloride channel in Japanese patients with low molecular weight proteinuria.

1998 ◽  
Vol 9 (5) ◽  
pp. 811-818
Author(s):  
T Morimoto ◽  
S Uchida ◽  
H Sakamoto ◽  
Y Kondo ◽  
H Hanamizu ◽  
...  
Keyword(s):  
Molecular Weight ◽  
Chloride Channel ◽  
Expression System ◽  
Hypophosphatemic Rickets ◽  
Low Molecular Weight ◽  
Loss Of Function ◽  
Dent’S Disease ◽  
Clcn5 Gene ◽  
Low Molecular Weight Proteinuria ◽  
Dent's Disease

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 Dent's disease in British families have also been reported to have mutations in the CLCN5 gene. The present study examines five unrelated Japanese families with LMWP, two of which lacked any signs other than LMWP, and three of which had several signs other than LMWP, i.e., hypercalciuria, aminoaciduria, hypophosphatemia, and rickets. One nonsense (E118X) and one missense (W22G) mutation were found in three patients in the two families having only LMWP. One genomic deletion including exons 5 to 8 in the CLCN5 gene was found in a patient with hypophosphatemic rickets, and a nonsense mutation (R347X) was found in one patient with LMWP and slight hypercalciuria. No mutations of the exons and exon-intron boundaries in the CLCN5 gene were found in one patient with LMWP, aminoaciduria, and hypokalemia. In addition to the predicted loss of chloride channel function in these nonsense and deletion mutations, the loss of function in the missense mutation W22G was confirmed in the Xenopus oocyte expression system. These results clarified four novel mutations in the CLCN5 genes, and additionally suggested that the loss-of-function mutation of the CLCN5 does not necessarily lead to hypercalciuria and nephrocalcinosis in the early stage of the disease, and that LMWP is an early and essential manifestation of disorders of the CLC-5 chloride channel.

scholarly journals Screening for CLCN5 mutation in renal calcium stone formers patients

2005 ◽  
Vol 77 (1) ◽  
pp. 95-101 ◽  
Author(s):  
Maria Alice P. Rebelo ◽  
Vera Tostes ◽  
Nordeval C. Araújo ◽  
Sabrina V. Martini ◽  
Bruno F. Botelho ◽  
...  
Keyword(s):  
Molecular Weight ◽  
Stone Disease ◽  
Idiopathic Hypercalciuria ◽  
Low Molecular Weight ◽  
Normal Range ◽  
Clcn5 Gene ◽  
Channel Gene ◽  
Stone Formers ◽  
Very High ◽  
Mild Renal Insufficiency

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 molecular weight proteinuria and the possible mutations occurrence in the chloride channel gene CLCN5. The urinary ratio of beta2-microglobulin and creatinine (beta2M/Cr) was very high in a transplanted woman with nephrocalcinosis (>3.23 mg/mmol) and slightly high in five patients (>0.052 or < 1.0 mg/mmol) with multiple urological manipulations. Other studied patients showed beta2M/Cr ratio at normal range (0.003-0.052 mg/mmol) without gender difference (p > 0.05). Mutation analysis of CLCN5 gene was performed in 26 patients of 35 selected (11 with idiopathic hypercalciuria; 6 men with normal calciuria; 3 with mild renal insufficiency and 6 with nephrocalcinosis) and was normal in all subjects even in those with abnormal molecular weight proteinuria. Conclusion: CLCN5 gene mutation is not a common cause of kidney stone disease or nephrocalcinosis in a group of Brazilian patients studied.

Low concentrations of intravenous polygelines promote low-molecular weight proteinuria

2003 ◽  
Vol 33 (11) ◽  
pp. 962-968 ◽  
Author(s):  
B. A. J. Veldman ◽  
H. L. E. Schepkens ◽  
G. Vervoort ◽  
I. Klasen ◽  
J. F. M. Wetzels
Keyword(s):  
Molecular Weight ◽  
Low Molecular Weight ◽  
Low Molecular Weight Proteinuria ◽  
Low Concentrations

Combined proteomic and metabonomic studies in three genetic forms of the renal Fanconi syndrome

2007 ◽  
Vol 293 (2) ◽  
pp. F456-F467 ◽  
Author(s):  
Annalisa Vilasi ◽  
Pedro R. Cutillas ◽  
Anthony D. Maher ◽  
Severine F. M. Zirah ◽  
Giovambattista Capasso ◽  
...  
Keyword(s):  
Molecular Weight ◽  
Fanconi Syndrome ◽  
Low Molecular Weight ◽  
Renal Fanconi Syndrome ◽  
Dent’S Disease ◽  
H Nmr ◽  
Low Molecular Weight Proteinuria ◽  
Dent's Disease ◽  
Underlying Mechanisms ◽  
Normal Urine

The renal Fanconi syndrome is a defect of proximal tubular function causing aminoaciduria and low-molecular-weight proteinuria. Dent's disease and Lowe syndrome are defined X-linked forms of Fanconi syndrome; there is also an autosomal dominant idiopathic form (ADIF), phenotypically similar to Dent's disease though its gene defect is still unknown. To assess whether their respective gene products are ultimately involved in a common reabsorptive pathway for proteins and low-molecular-mass endogenous metabolites, we compared renal Fanconi urinary proteomes and metabonomes with normal (control) urine using mass spectrometry and1H-NMR spectroscopy, respectively. Urine from patients with low-molecular-weight proteinuria secondary to ifosfamide treatment (tubular proteinuria; TP) was also analyzed for comparison. All four of the disorders studied had characteristic proteomic and metabonomic profiles. Uromodulin was the most abundant protein in normal urine, whereas Fanconi urine was dominated by albumin.1H-NMR spectroscopic data showed differences in the metabolic profiles of Fanconi urine vs. normal urine, due mainly to aminoaciduria. There were differences in the urinary metabolite and protein compositions between the three genetic forms of Fanconi syndrome: cluster analysis grouped the Lowe and Dent's urinary proteomes and metabonomes together, whereas ADIF and TP clustered together separately. Our findings demonstrate a distinctive “polypeptide and metabolite fingerprint” that can characterize the renal Fanconi syndrome; they also suggest that more subtle and cause-specific differences may exist between the different forms of Fanconi syndrome that might provide novel insights into the underlying mechanisms and cellular pathways affected.

scholarly journals Incidental Detection of Dent-2 Disease in an Infant with Febrile Proteinuria

2018 ◽  
Vol 27 (4) ◽  
pp. 392-395 ◽  
Author(s):  
Shpetim Salihu ◽  
Katerina Tosheska ◽  
Svetlana Cekovska ◽  
Velibor Tasic
Keyword(s):  
Molecular Weight ◽  
Sodium Dodecyl Sulfate ◽  
Clinical Presentation ◽  
Viral Infections ◽  
Sodium Dodecyl ◽  
Febrile Illness ◽  
Low Molecular Weight ◽  
Acute Febrile Illness ◽  
Low Molecular Weight Proteinuria ◽  
Sds Page

Objective: Febrile proteinuria is functional proteinuria and is seen as a transitory phenomenon during acute febrile illness, mainly viral infections. It is a benign phenomenon and clears promptly with resolution of the infection. Clinical Presentation and Intervention: In this report, we present a patient who was thought to have febrile proteinuria. Persistence of significant proteinuria after resolution of the infection prompted biochemical and genetic workup which led to the diagnosis of Dent-2 disease. Conclusion: We recommend the use of SDS-PAGE (sodium dodecyl sulfate electropheresis) for the detection of low molecular weight proteinuria.

Hypercalciuria and Nephrocalcinosis in Patients with Idiopathic Low-Molecular-Weight Proteinuria in Japan: Is the Disease Identical to Dent’s Disease in United Kingdom?

Nephron ◽  
1995 ◽  
Vol 69 (3) ◽  
pp. 242-247 ◽  
Author(s):  
Takashi Igarashi ◽  
Hiroshi Hayakawa ◽  
Hiroshi Shiraga ◽  
Hidehiko Kawato ◽  
Kunimasa Yan ◽  
...  
Keyword(s):  
Molecular Weight ◽  
United Kingdom ◽  
Low Molecular Weight ◽  
Dent’S Disease ◽  
Low Molecular Weight Proteinuria ◽  
Dent's Disease

Low Molecular Weight Proteinuria

2015 ◽  
pp. 156-162 ◽  
Author(s):  
Y. Manuel ◽  
A. Colle ◽  
M. Leclercq ◽  
C. Tonnelle
Keyword(s):  
Molecular Weight ◽  
Low Molecular Weight ◽  
Low Molecular Weight Proteinuria
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