Hae Il Cheong
Affiliation: Seoul National University
Cheong H, Cho H, Kim J, Yu Y, Ha I, Choi Y. A clinico-genetic study of renal coloboma syndrome in children. Pediatr Nephrol. 2007;22:1283-9 pubmed
..VUR is not a cardinal renal manifestation of RCS. The possibility of germline mosaicism should be considered during molecular diagnosis and genetic counseling for PAX2 mutations. ..
Cho Y, Hyun H, Park E, Moon K, Min S, Ha J, et al
. Higher Incidence of BK Virus Nephropathy in Pediatric Kidney Allograft Recipients with Alport Syndrome. J Clin Med. 2019;8: pubmed publisher
..In summary, the incidence of BKVN in pediatric kidney allograft recipients was similar to findings in previous reports, but was higher in patients with underlying Alport syndrome. ..
Lee J, Nozu K, Choi D, Kang H, Ha I, Cheong H. Features of Autosomal Recessive Alport Syndrome: A Systematic Review. J Clin Med. 2019;8: pubmed publisher
..There was a genotype phenotype correlation according to the number of missense mutations. Patients with missense mutations had delayed onset of hematuria, ESRD, and SNHL and lower prevalence of extrarenal manifestations. ..
Lee K, Park E, Choi H, Kang H, Ha I, Cheong H, et al
. Anemia and Iron Deficiency in Children with Chronic Kidney Disease (CKD): Data from the Know-Ped CKD Study. J Clin Med. 2019;8: pubmed publisher
Park P, Kim K, Hyun H, Lee C, Park J, Kie J, et al
. Three cases of multicentric carpotarsal osteolysis syndrome: a case series. BMC Med Genet. 2018;19:164 pubmed publisher
..A diagnosis of MCTO should be considered in patients with progressive bone loss concentrated primarily in the carpal and tarsal bones and kidney involvement, such as proteinuria. ..
Hyun H, Kim S, Park E, Cho M, Kang H, Lee H, et al
. A familial case of Galloway-Mowat syndrome due to a novel TP53RK mutation: a case report. BMC Med Genet. 2018;19:131 pubmed publisher
..We report on a familial case of GAMOS with three affected siblings carrying a novel homozygous TP53RK mutation. To our knowledge, this is only the second report on GAMOS in association with a TP53RK mutation. ..
Park H, Kang A, Jang J, Kim H, Han M, Oh K, et al
. Increased urinary Angiotensinogen/Creatinine (AGT/Cr) ratio may be associated with reduced renal function in autosomal dominant polycystic kidney disease patients. BMC Nephrol. 2015;16:86 pubmed publisher
Ahn Y, Park E, Kang H, Kim S, Cho H, Shin J, et al
. Genotype-phenotype analysis of pediatric patients with WT1 glomerulopathy. Pediatr Nephrol. 2017;32:81-89 pubmed
..WT1 mutations manifest as a wide spectrum of renal and extra-renal phenotypes. Genetic diagnosis is essential for overall management and to predict the genotype-specific risk of DSDs and the development of malignancies. ..
Cheong H, Cho H, Park H, Ha I, Choi Y. Molecular genetic study of congenital nephrogenic diabetes insipidus and rescue of mutant vasopressin V2 receptor by chemical chaperones. Nephrology (Carlton). 2007;12:113-7 pubmed
..These data show that some chemical chaperones correct the mistrafficking of misfolded A98P, L274P and R113W V2R. Thus, we believe that a therapeutic strategy based on chemical chaperones in patients with these mutations is worth trying. ..