X-linked hypercalciuric nephrolithiasis: Clinical syndromes and chloride channel mutations

Scheinman, Steven J.

doi:10.1046/j.1523-1755.1998.00718.x

Cited by 248 publications

(215 citation statements)

References 59 publications

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“…Although clinical features of CLCN5 mutation diseases manifest mainly in affected man, female nephrolithiasis and/or nephrocalcinosis have been reported but normally the carrier woman is not symptomatic (Scheinman 1998, Reed et al 2002.…”

Section: Discussionmentioning

confidence: 99%

Screening for CLCN5 mutation in renal calcium stone formers patients

Rebelo

Tostes²,

Araújo

et al. 2005

An. Acad. Bras. Ciênc.

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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 β2-microglobulin and creatinine (β2M/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 β2M/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.

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Section: Discussionmentioning

confidence: 99%

Screening for CLCN5 mutation in renal calcium stone formers patients

Rebelo

Tostes²,

Araújo

et al. 2005

An. Acad. Bras. Ciênc.

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“…Approximately 25% of affected males also have rickets or osteomalacia, with deforming bone disease in childhood (44,45). Interestingly, the occurrence of rickets varies between affected members of the same family as well as between different families with the same mutation.…”

Section: Dent's Diseasementioning

confidence: 99%

“…Interestingly, the occurrence of rickets varies between affected members of the same family as well as between different families with the same mutation. It is unknown whether this variability is due to modifying genes or environmental factors (45).…”

Section: Dent's Diseasementioning

confidence: 99%

Ion channelopathies in endocrinology: recent genetic findings and pathophysiological insights

Rolim

Lindsey

Kunii

et al. 2010

Arq Bras Endocrinol Metab

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SUMMARYIon channels serve diverse cellular functions, mainly in cell signal transduction. In endocrine cells, these channels play a major role in hormonal secretion, Ca 2+ -mediated cell signaling, transepithelial transport, cell motility and growth, volume regulation and cellular ionic content and acidification of lysosomal compartments. Ion channel dysfunction can cause endocrine disorders or endocrine-related manifestations, such as pseudohypoaldosteronism type 1, Liddle syndrome, Bartter syndrome, persistent hyperinsulinemic hypoglycemia of infancy, neonatal diabetes mellitus, cystic fibrosis, Dent's disease, hypomagnesemia with secondary hipocalcemia, nephrogenic diabetes insipidus and, the most recently genetically identified channelopathy, thyrotoxic hypokalemic periodic paralysis. This review briefly recapitulates the membrane action potential in endocrine cells and offers a short overview of known endocrine channelopathies with focus on recent progress regarding the pathophysiological mechanisms and functional genetic defects. , transporte transepitelial, regulação da motilidade, volume e conteúdo iônico celular e da acidificação do compartimento lisossomal (pH). Como esperado, as alterações nos canais iônicos podem causar distúrbios endocrinológicos, como pseudo-hipoaldosteronismo tipo 1, síndrome de Liddle, síndrome de Bartter, hipoglicemia hiperinsulinêmica da infância, diabetes melito neonatal, fibrose cística, doença de Dent, hipomagnesemia com hipocalcemia secundária, diabetes insípido nefrogênico e paralisia periódica tirotóxica hipocalêmica. Este artigo propõe uma breve revisão das canalopatias endócrinas conhecidas, com foco particular nos recentes progressos no conhecimento dos mecanismos fisiopatológicos adquirido a partir das alterações funcionais encontradas. Arq Bras Endocrinol Metab. 2010;54(8):673-81 Descritores Canal iônico; canalopatia; canalopatia endócrina

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“…La maladie de Dent regroupe plusieurs entités de néphrolithiases héréditaires liées au chromosome X (pour revue, voir [24]) se traduisant par une protéinurie et une hypercalciurie accompagnées dans certains cas d'un rachitisme ou d'une ostéomalacie avec hypophosphatémie. Dans la majorité des cas, la maladie se manifeste dès l'enfance et évolue de façon variable vers l'insuffisance rénale.…”

Section: Le Canal Clc-kb : Participation à L'absorption Rénale De Chlunclassified

Fonctions physiologiques des canaux chlorure de la famille ClC

Teulon

Vandewalle

2002

Med Sci (Paris)

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X-linked hypercalciuric nephrolithiasis: Clinical syndromes and chloride channel mutations

Cited by 248 publications

References 59 publications

Screening for CLCN5 mutation in renal calcium stone formers patients

Screening for CLCN5 mutation in renal calcium stone formers patients

Ion channelopathies in endocrinology: recent genetic findings and pathophysiological insights

Fonctions physiologiques des canaux chlorure de la famille ClC

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