New Cystinuria Research Has Been Reported by a Researcher at National Health Insurance Service Ilsan Hospital (Clinical Course and Mutational Analysis of Patients with Cystine Stone: A Single-Center Experience): Nutritional and Metabolic Diseases and Conditions – Cystinuria

NewsRx Medical Devices Daily

2023 OCT 27 (NewsRx) -- By a News Reporter-Staff News Editor at NewsRx Medical Devices Daily -- Data detailed on cystinuria have been presented. According to news reporting originating from Goyang, South Korea, by NewsRx correspondents, research stated, “Cystinuria is a known genetic disorder.”

The news correspondents obtained a quote from the research from National Health Insurance Service Ilsan Hospital: “To date, two genes, SLC3A1 and SLC7A9, have been identified as causes of cystinuria. In this study of 10 patients with cystinuria, which is the largest Korean cohort ever studied, we examined the patients’ phenotypes, clinical courses, and genetic analyses. A total of 10 patients with cystinuria diagnosed with cystine stones in a single tertiary medical center (Severance Hospital, Seoul, Republic of Korea) from April 2000 to July 2023 were included in the study. All of the patients participated in mutational studies, and the clinical presentation and consecutive laboratory findings of the patients were analyzed retrospectively. After the initial stone-related surgery or procedure at our hospital, 6 of the 10 patients underwent additional surgery at least once for recurrent stones. Genetic analyses identified six new mutations, of which only two patients had type B mutations.”

According to the news reporters, the research concluded: “The most common genotype was compound heterozygous type A. We investigated the genotypes and clinical courses of 10 Korean patients with cystinuria who had not been previously reported. More data are needed to statistically analyze the genotype and phenotype of cystinuria.”

For more information on this research see: Clinical Course and Mutational Analysis of Patients with Cystine Stone: A Single-Center Experience. Biomedicines, 2023,11(10). (Biomedicines - http://www.mdpi.com/journal/biomedicines). The publisher for Biomedicines is MDPI AG.

A free version of this journal article is available at https://doi.org/10.3390/biomedicines11102747.

Our news editors report that more information may be obtained by contacting Jae Yong Jeong, Department of Urology, National Health Insurance Service Ilsan Hospital, Goyang 10444, South Korea. Additional authors for this research include Kyung Jin Oh, Jun Seok Sohn, Dae Young Jun, Jae Il Shin, Keum Hwa Lee, Joo Yong Lee.