Detail
Článek
Článek online
FT
Medvik - BMČ
  • Je něco špatně v tomto záznamu ?

Dent Disease Type 2 as a Cause of Focal Segmental Glomerulosclerosis in a 6-Year-Old Boy: A Case Report

M. Bezdíčka, J. Langer, J. Háček, J. Zieg,

. 2020 ; 8 (-) : 583230. [pub] 20201028

Jazyk angličtina Země Švýcarsko

Typ dokumentu kazuistiky

Perzistentní odkaz   https://www.medvik.cz/link/bmc21001876

Dent disease is an X-linked recessive renal tubular disorder characterized by proximal tubule dysfunction. Typical features include low molecular weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, rickets, and chronic renal failure. We present a case of a 6-year-old boy with nephrotic proteinuria without hypoalbuminemia or edema. His renal biopsy revealed focal segmental glomerulosclerosis (FSGS), some of the glomeruli were globally sclerotic. Hypercalciuria was present intermittently and urine protein electrophoresis showed low molecular weight protein fraction of 50%. The next generation sequencing identified pathogenic variant in OCRL gene causing Dent disease type 2. We report an uncommon histologic finding of FSGS in Dent disease type 2 and highlight the importance of protein content examination and genetic analysis for the proper diagnosis in these complicated cases.

Citace poskytuje Crossref.org

000      
00000naa a2200000 a 4500
001      
bmc21001876
003      
CZ-PrNML
005      
20250108154336.0
007      
ta
008      
210105e20201028sz f 000 0|eng||
009      
AR
024    7_
$a 10.3389/fped.2020.583230 $2 doi
035    __
$a (PubMed)33194915
040    __
$a ABA008 $b cze $d ABA008 $e AACR2
041    0_
$a eng
044    __
$a sz
100    1_
$a Bezdíčka, Martin $u Department of Pediatrics, Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czechia. $7 xx0327370
245    10
$a Dent Disease Type 2 as a Cause of Focal Segmental Glomerulosclerosis in a 6-Year-Old Boy: A Case Report. / $c M. Bezdíčka, J. Langer, J. Háček, J. Zieg,
520    9_
$a Dent disease is an X-linked recessive renal tubular disorder characterized by proximal tubule dysfunction. Typical features include low molecular weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, rickets, and chronic renal failure. We present a case of a 6-year-old boy with nephrotic proteinuria without hypoalbuminemia or edema. His renal biopsy revealed focal segmental glomerulosclerosis (FSGS), some of the glomeruli were globally sclerotic. Hypercalciuria was present intermittently and urine protein electrophoresis showed low molecular weight protein fraction of 50%. The next generation sequencing identified pathogenic variant in OCRL gene causing Dent disease type 2. We report an uncommon histologic finding of FSGS in Dent disease type 2 and highlight the importance of protein content examination and genetic analysis for the proper diagnosis in these complicated cases.
655    _2
$a kazuistiky $7 D002363
700    1_
$a Langer, Jan $u Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czechia.
700    1_
$a Háček, Jaromír $u Department of Pathology and Molecular Medicine, Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czechia.
700    1_
$a Zieg, Jakub $u Department of Pediatrics, Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czechia.
773    0_
$w MED00194312 $t Frontiers in pediatrics $x 2296-2360 $g Roč. 8 (20201028), s. 583230
856    41
$u https://pubmed.ncbi.nlm.nih.gov/33194915 $y Pubmed
910    __
$a ABA008 $b sig $c sign $y - $z 0
990    __
$a 20210105 $b ABA008
991    __
$a 20250108154331 $b ABA008
999    __
$a ind $b bmc $g 1614052 $s 1122160
BAS    __
$a 3
BAS    __
$a PreBMC
BMC    __
$a 2020 $b 8 $c - $d 583230 $e 20201028 $i 2296-2360 $m Frontiers in pediatrics $n Front Pediatr $x MED00194312
LZP    __
$a Pubmed-20210105

Najít záznam

Citační ukazatele

Možnosti archivace