Clinical and genetic characterization of children with cubilin variants.
Children
Cubilin
Focal segmental glomerulosclerosis
Proteinuria
Journal
Pediatric nephrology (Berlin, Germany)
ISSN: 1432-198X
Titre abrégé: Pediatr Nephrol
Pays: Germany
ID NLM: 8708728
Informations de publication
Date de publication:
04 2023
04 2023
Historique:
received:
22
04
2022
accepted:
29
08
2022
revised:
28
08
2022
pubmed:
17
9
2022
medline:
16
2
2023
entrez:
16
9
2022
Statut:
ppublish
Résumé
Cubilin is one of the receptor proteins responsible for reabsorption of albumin in proximal tubules and is encoded by the CUBN gene. We aimed to evaluate clinical and genetic characterization of six patients with proteinuria who had CUBN mutations. Patients' characteristics, serum creatinine, albumin, vitamin B Six patients (2 female, 4 male) with an incidental finding of proteinuria were evaluated. Mean admission age and follow-up time were 7.3 ± 2.9 and 6.5 ± 5.6 years, respectively. Serum albumin, creatinine, and eGFR were normal; urine analysis revealed no hematuria, and C3, C4, ANA, and anti-DNA were negative; kidney ultrasonography was normal for all patients. Urine protein/creatinine was 0.9 ± 0.3 mg/mg, and microalbumin was high in all patients. Serum vitamin B CUBN gene mutations should be considered in patients with isolated non-nephrotic range proteinuria and normal kidney function. Diagnosing these patients, who are thought to have a better prognosis, is important in terms of avoiding unnecessary treatment and predicting prognosis. CUBN gene mutations may also present as FSGS which extends the spectrum of renal manifestation of these patients. A higher resolution version of the Graphical abstract is available as Supplementary information.
Sections du résumé
BACKGROUND
Cubilin is one of the receptor proteins responsible for reabsorption of albumin in proximal tubules and is encoded by the CUBN gene. We aimed to evaluate clinical and genetic characterization of six patients with proteinuria who had CUBN mutations.
METHODS
Patients' characteristics, serum creatinine, albumin, vitamin B
RESULTS
Six patients (2 female, 4 male) with an incidental finding of proteinuria were evaluated. Mean admission age and follow-up time were 7.3 ± 2.9 and 6.5 ± 5.6 years, respectively. Serum albumin, creatinine, and eGFR were normal; urine analysis revealed no hematuria, and C3, C4, ANA, and anti-DNA were negative; kidney ultrasonography was normal for all patients. Urine protein/creatinine was 0.9 ± 0.3 mg/mg, and microalbumin was high in all patients. Serum vitamin B
CONCLUSIONS
CUBN gene mutations should be considered in patients with isolated non-nephrotic range proteinuria and normal kidney function. Diagnosing these patients, who are thought to have a better prognosis, is important in terms of avoiding unnecessary treatment and predicting prognosis. CUBN gene mutations may also present as FSGS which extends the spectrum of renal manifestation of these patients. A higher resolution version of the Graphical abstract is available as Supplementary information.
Identifiants
pubmed: 36112210
doi: 10.1007/s00467-022-05730-y
pii: 10.1007/s00467-022-05730-y
doi:
Substances chimiques
intrinsic factor-cobalamin receptor
0
Creatinine
AYI8EX34EU
Receptors, Cell Surface
0
Albumins
0
Vitamins
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1381-1385Informations de copyright
© 2022. The Author(s), under exclusive licence to International Pediatric Nephrology Association.
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