A patient with Dent disease and features of Bartter syndrome caused by a novel mutation of CLCN5

Okamoto, Takayuki; Tajima, Toshihiro; Hirayama, Tomoya; Sasaki, Satoshi

doi:10.1007/s00431-011-1578-3

Cited by 27 publications

(25 citation statements)

References 13 publications

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“…27 Pseudo-Bartter syndrome has been reported at a low frequency in infants with Dent disease. 5,15 Renal losses of sodium (and potassium) are not constitutive, because young patients without FS can adapt to salt restriction. 27 However, we found that plasma potassium concentration declined with age, such that half the patients older than 18 years had hypokalemia with normal-range bicarbonatemia.…”

Section: Comparative Phenotype Changes For Patients With Dent-1 and Dmentioning

confidence: 99%

“…[10][11][12][13] ClC-5, the protein encoded by the CLCN5 gene, is expressed mostly in the kidney, in the endosomes of proximal tubular cells, and to a lesser extent in medullary thick ascending limb cells and the intercalated cells of the collecting duct. 14 This widespread expression along the length of the renal tubule may account for the observed phenotypic diversity in Dent-1, extending from a purely proximal disorder to a mixture of proximal and distal disorders, including pseudo-Bartter syndrome (i.e., renal salt and potassium wasting with nephrocalcinosis) 5,15 and impaired distal acidification 8 attributed to abnormal hydrogen adenosine triphosphatase trafficking. 14, 16 We wondered whether phenotypic variations in Dent-1 reflected a genotype-phenotype correlation, the progression of CKD (i.e., nonspecific), or the natural course of the disease.…”

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confidence: 98%

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Observations of a large Dent disease cohort

Blanchard

Curis

Guyon-Roger

et al. 2016

Kidney International

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Dent disease classically combines low-molecular-weight proteinuria, hypercalciuria with nephrocalcinosis, and renal failure. Nephrotic range proteinuria, normal calciuria, and hypokalemia have been rarely reported. It is unknown whether the changes in phenotype observed over time are explained by a decrease in glomerular filtration rate (GFR) or whether there is any phenotype-genotype relationship. To answer this we retrospectively analyzed data from 109 male patients with CLCN5 mutations (Dent-1) and 9 patients with mutation of the OCRL gene (Dent-2). In Dent-1 disease, the estimated GFR decreased with age, by 1.0 to 1.6 ml/min per 1.73 m(2)/yr in the absence and presence of nephrocalcinosis, respectively, with no significant difference. Median values of low-molecular-weight proteinuria were in the nephrotic range and remained at the same level even in late renal disease. End-stage renal disease occurred in 12 patients, at a median age of 40 years. Hypercalciuria decreased with glomerular filtration and was absent in 40% of the patients under 30 and 85% of those over the age of 30. Hypophosphatemia did not resolve with age and calcitriol concentrations were in the upper normal range. Kalemia decreased with age, with half of the patients over the age of 18 presenting with hypokalemia. Thus, no phenotype/genotype correlation was observed in this cohort of patients with Dent disease.

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Section: Comparative Phenotype Changes For Patients With Dent-1 and Dmentioning

confidence: 99%

mentioning

confidence: 98%

Observations of a large Dent disease cohort

Blanchard

Curis

Guyon-Roger

et al. 2016

Kidney International

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“…He started rhGH therapy at the age of 4 years while gradually increasing the phosphate buffer and vitamin D levels to match his growth. After initiation of rhGH therapy, his height gradually increased, and finally reached −2.0 SD at 9 years of age Dent disease and Bartter syndrome [3,4], rhGH therapy is also effective for the patients with FS and GHD. Second, elevated levels of serum ALP and slightly decreased levels of serum calcium were observed after rhGH therapy in our patient (Table 1).…”

Section: Discussionmentioning

confidence: 99%

Growth hormone therapy for a patient with idiopathic Fanconi syndrome and growth hormone deficiency

et al. 2017

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“…Ločimo dve obliki dedovanja te bolezni. Prva in pogostejša je Dentova bolezen 1, pri kateri gre za mutacijo v genu CLCN5, druga je Dentova bolezen 2, pri kateri gre za mutacijo v genu za OCRL in se dodatno kaže tudi z zunajledvičnimi pojavi (duševno manjrazvitostjo, katarakto in hipotonijo) (1)(2)(3)(4)(5).…”

Section: Uvodunclassified

“…Lociran je skupaj z ATP-protonsko črpal-ko na endosomu proksimalnih tubulnih celic (2,4,12). Klinično se v večini primerov kaže kot zelo težka ali blaga oblika s hiperkalciurijo, bolezensko proteinurijo (prevladovanje beljakovin z majhno molekulsko maso), nefrokalcinozo in kronično ledvično boleznijo (1,5). Zaenkrat še ni znanih podatkov o tem, koliko obolelih ima le blago varianto bolezni z asimptomatsko hiperkalciurijo in/ ali proteinurijo brez simptomov in brez napredovanja do kronične ledvične bolezni.…”

Section: Razpravljanjeunclassified

Dentova bolezen

Rus

Vogrin

2017

SlovMedJour

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IzvlečekDentova bolezen je dedna, na kromosom X vezana motnja v delovanju proksimalnih tubulov ledvic, prisotna skoraj izključno pri moških. Klinično se kaže z bolezensko proteinurijo, ki je pretežno tubulna, hiperkalciurijo, nefrokalcinozo, nefrolitiazo in kronično ledvično boleznijo. Znaki in simptomi bolezni se pojavijo že zgodaj v otroštvu in z leti napredujejo. Poznamo dve obliki bolezni, ki se razlikujeta glede na vzročno mutacijo v genih ter klinično sliko (tip 1 in tip 2). Pri tipu 2 Dentove bolezni so poleg že opisane klinične slike značilni še zunajledvični pojavi, kot so duševna manjrazvitost, hipotonija in katarakta. Nekateri raziskovalci menijo, da je Dentova bolezen tip 2 blaga varianta Lowejevega sindroma.V članku predstavljamo klinični primer dečka, pri katerem smo ugotovili bolezensko proteinurijo v nefrotskem območju in hiperkalciurijo. Z genetsko analizo smo potrdili Dentovo bolezen tip 1. AbstractDent disease is an x-linked disorder of proximal renal tubular dysfunction that occurs almost exclusively in males. It is characterized by significant, mostly low molecular weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, and chronic kidney disease. Signs and symptoms of this condition appear in early childhood and worsen over time. There are two forms of Dent disease, which are distinguished by their genetic cause and pattern of signs and symptoms (type 1 and type 2). Dent disease 2 is characterized by the features described above and also associated with extrarenal abnormalities (they include mild intellectual disability, hypotonia, and cataract). Some researchers consider Dent disease 2 to be a mild variant of a similar disorder called Lowe syndrome.We represent a case of a 3-year old boy with significant proteinuria in the nephrotic range and hypercalciuria. We confirmed Dent disease type 1 by genetic analysis. UvodDentova bolezen je dedna, na kromosom X vezana motnja v delovanju proksimalnih tubulov ledvic. Klinično se kaže z bolezensko proteinurijo, pri kateri se s sečem v večji meri izločajo beljakovine z majhno molekulsko maso. Pri glomerulni okvari so to albumini, pri okvari tubulov pa so to beljakovine alfa-1-mikroglobulin, beta-2-mikroglobulin, retinol vezujoči protein in N-acetil glukozaminidaza. Poleg tega pa so za Dentovo bolezen značilni še hiperkalciurija, nefrokalcinoza in nefrolitiaza. Gre za kronično ledvično bolezen, ki lahko napreduje do končne ledvične odpovedi (1-3). Je zelo redka dedna bolezen. Pogostnost te bolezni v doslej objavljeni literaturi ni natančno določena. Do sedaj je znanih 250 družin z Dentovo boleznijo tipa 1 in 25 posameznikov z Dentovo boleznijo tipa 2. Bolezen je polno izražena le pri moških, saj se deduje vezano

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A patient with Dent disease and features of Bartter syndrome caused by a novel mutation of CLCN5

Cited by 27 publications

References 13 publications

Observations of a large Dent disease cohort

Observations of a large Dent disease cohort

Growth hormone therapy for a patient with idiopathic Fanconi syndrome and growth hormone deficiency

Dentova bolezen

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