Focal segmental glomerulosclerosis and medullary nephrocalcinosis in children with ADCK4 mutations View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2017-04-12

AUTHORS

Eujin Park, Hee Gyung Kang, Young Hun Choi, Kyoung Bun Lee, Kyung Chul Moon, Hyeon Joo Jeong, Michio Nagata, Hae Il Cheong

ABSTRACT

BackgroundMutations in the AarF domain containing kinase 4 gene (ADCK4), one of the novel genes causing steroid-resistant nephrotic syndrome (SRNS), usually manifest as isolated adolescent-onset focal segmental glomerulosclerosis (FSGS). ADCK4 interacts with components of the coenzyme Q10 (CoQ10) biosynthesis pathway.MethodsThe incidence and phenotypes of patients with ADCK4 mutations were investigated in a cohort of Korean pediatric patients with SRNS.ResultsAmong the 53 patients enrolled in the study the incidence of ADCK4-associated FSGS was 7.5% (n = 4) in children aged 5 years and older with multidrug-resistant FSGS. Two additional patients were included for phenotype analyses, one detected by family screening and the other with cyclosporine-responsive FSGS. These six patients presented proteinuria without overt nephrotic syndrome at a median age of 110 (range 60–153) months, of whom five progressed to end-stage renal disease within a median period of 46 (range 36–79) months after onset. Renal biopsies revealed mitochondrial abnormalities in podocytes and tubular cells of all patients. Notably, all patients showed accompanying medullary nephrocalcinosis. None of the patients showed other extrarenal manifestations.ConclusionsADCK4 mutations should be considered in older children presenting with steroid resistant FSGS. An early diagnosis of ADCK4 mutations is essential because the condition is treatable with CoQ10 supplementation at an early stage. The association with medullary nephrocalcinosis may be an additional diagnostic indicator. More... »

PAGES

1547-1554

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s00467-017-3657-9

DOI

http://dx.doi.org/10.1007/s00467-017-3657-9

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1084815209

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/28405841


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