Title |
Focal segmental glomerulosclerosis and medullary nephrocalcinosis in children with ADCK4 mutations
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Published in |
Pediatric Nephrology, April 2017
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DOI | 10.1007/s00467-017-3657-9 |
Pubmed ID | |
Authors |
Eujin Park, Hee Gyung Kang, Young Hun Choi, Kyoung Bun Lee, Kyung Chul Moon, Hyeon Joo Jeong, Michio Nagata, Hae Il Cheong |
Abstract |
Mutations 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. The incidence and phenotypes of patients with ADCK4 mutations were investigated in a cohort of Korean pediatric patients with SRNS. Among 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. ADCK4 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. |
X Demographics
Geographical breakdown
Country | Count | As % |
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Canada | 1 | 11% |
India | 1 | 11% |
Netherlands | 1 | 11% |
United States | 1 | 11% |
Brazil | 1 | 11% |
Russia | 1 | 11% |
Unknown | 3 | 33% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 6 | 67% |
Practitioners (doctors, other healthcare professionals) | 2 | 22% |
Science communicators (journalists, bloggers, editors) | 1 | 11% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 31 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 8 | 26% |
Researcher | 6 | 19% |
Other | 3 | 10% |
Unspecified | 3 | 10% |
Student > Bachelor | 3 | 10% |
Other | 5 | 16% |
Unknown | 3 | 10% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 10 | 32% |
Biochemistry, Genetics and Molecular Biology | 7 | 23% |
Agricultural and Biological Sciences | 3 | 10% |
Unspecified | 3 | 10% |
Psychology | 1 | 3% |
Other | 1 | 3% |
Unknown | 6 | 19% |