Clinical utility gene card for: Dent disease (Dent-1 and Dent-2)

Ludwig, Michael; Levtchenko, Elena; Bökenkamp, Arend

doi:10.1038/ejhg.2014.33

Cited by 7 publications

(4 citation statements)

References 19 publications

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“…Many of these therapeutical chances have only been tested in vitro or in animal models. The way to get them into human use still may be long, but patients’ distress is urging scientist to proceed with their work ( 20 , 21 , 77 – 93 ).…”

Section: Discussionmentioning

confidence: 99%

“…Other genetic diseases resulting in hypercalciuria is familial hypomagnesemia hypercalciuria and nephrocalcinosis syndrome or are the different types of Dent Disease (Dent 1 and 2). In the latter, a diagnostic hint can be male gender (x-chromosomal recessive) accompanied by low molecular weight proteinuria and severe hypercalciuria ( 21 ).…”

Section: Hypercalciuriamentioning

confidence: 99%

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Nephrolithiasis and Nephrocalcinosis in Childhood—Risk Factor-Related Current and Future Treatment Options

Weigert

Höppe

2018

Front. Pediatr.

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Nephrolithiasis, urolithiasis, and nephrocalcinosis (NC) have become common causes of hospitalization and referral to pediatric outpatient clinics. It is of utmost importance to start with diagnostic evaluation directly after the first passage of a kidney stone, or if NC is diagnosed, in each pediatric patient. This is necessary, as in about 80% of children a metabolic reason for stone disease is detected. Current treatment options are scarce and mainly include general measures like an increased fluid intake or elevating the solubility of a lithogenic substance. According to the given lithogenic risk factor(s), specific treatment options are available and are being summarized in this review. Furthermore, an outlook on potential future treatment options, including innovative strategies such as mRNA-based or recombinant enzyme substitution therapy, is given.

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Section: Discussionmentioning

confidence: 99%

Section: Hypercalciuriamentioning

confidence: 99%

Nephrolithiasis and Nephrocalcinosis in Childhood—Risk Factor-Related Current and Future Treatment Options

Weigert

Höppe

2018

Front. Pediatr.

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“…Both the classical view and Dickson's findings imply that substantial amounts of albumin will be detected in the urine of individuals with defective tubular protein reabsorption but normal glomeruli, and does not necessarily imply a glomerular origin of albuminuria. This is illustrated by an increased urine albumin-creatinine ratio of 38 mg/mmol in patients with Dent disease, who have impaired proximal tubular protein absorption [16,26], reported by Norden et al [27].…”

Section: Filtration and Reabsorption Of Plasma Proteinsmentioning

confidence: 97%

Proteinuria—take a closer look!

Bökenkamp

2020

Pediatr Nephrol

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Proteinuria is a hallmark of kidney disease. Therefore, measurement of urine protein content plays a central role in any diagnostic work-up for kidney disease. In many cases, proteinuria analysis is restricted to the measurement of total protein content knowing that very high levels of proteinuria (nephrotic proteinuria) are characteristic of glomerular disease. Still, proteinuria can also be a manifestation of impaired tubular protein reabsorption or even be physiological. This review will discuss the physiology of renal protein handling and give guidance on a more sophisticated analysis of proteinuria differentiating albumin, low-molecular weight proteins and immunoglobulins. These non-invasive tests are available in most routine clinical laboratories and may guide the clinician in the diagnostic process before ordering far more expensive (molecular genetic testing) and/or invasive (kidney biopsy) diagnostics.

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“…These patients are classified as having Dent-2 disease (MIM #300555). 10,12 Reported extra-renal abnormalities were mild growth retardation, clinically unapparent cataract in 2/28, subtle mental retardation in 9/23 and elevated creatine kinase or lactate dehydrogenase in all. 10 In selected cases the classification as Lowe syndrome or Dent-2 disease can be somewhat arbitrary.…”

Section: Diagnostic Settingmentioning

confidence: 99%