Results 1 to 10 of about 6,550 (239)

Prenatal diagnosis of cystinuria with a heterozygous pathogenic variant in SLC7A9 gene associated with isolated hyperechogenic fetal kidneys: A case report [PDF]

Clinical Case Reports
Key Clinical Message Cystinuria is suspected antenatally by a hyperechogenic fetal colonic content. We report the first prenatal case of autosomal dominant SLC7A9‐related cystinuria associated with isolated hyperechogenic kidneys as the only prenatal ...
Osaretin Pamela Aigbogun, Noémie Vancoppenolle, Sandra Coppens, Martina Marangoni, Elodie Elsen, Marie Cassart, Caroline Gounongbe   +6 more
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Unilateral renal mucormycosis in a patient presenting with pyelonephritis and acute kidney failure: A case report [PDF]

Clinical Case Reports
Key Clinical Message Unilateral renal mucormycosis is a rare infection that should be suspected in patients with recurrent renal infections presenting nonspecific clinical features that do not respond to conventional therapies, especially in impaired ...
Bahar Darouei, Mohammad Mehdi Zare, Hedie Torkashvan, Abbas Ali Torfeh Esfahani   +3 more
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Clinical Course and Mutational Analysis of Patients with Cystine Stone: A Single-Center Experience [PDF]

Biomedicines, 2023
Cystinuria is a known genetic disorder. 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 ...
Jae Yong Jeong, Kyung Jin Oh, Jun Seok Sohn, Dae Young Jun, Jae Il Shin, Keum Hwa Lee, Joo Yong Lee   +6 more
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Novel compound heterozygous pathogenic variants in the SLC3A1 gene in a Chinese family with cystinuria [PDF]

BMC Medical Genomics, 2023
Background Cystinuria is an autosomal recessive disorder characterized by a cystine transport deficiency in the renal tubules due to mutations in two genes: SLC3A1 and SLC7A9.
Danhua Liu, Yongli Zhao, Xia Xue, Xinyue Hou, Hongen Xu, Xinghua Zhao, Yongan Tian, Wenxue Tang, Jiancheng Guo, Changbao Xu   +9 more
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Genetic and clinical characteristics of Japanese cystinuria with exon and exon–intron boundary variants [PDF]

Scientific Reports
Cystinuria is the most common genetic cause of urinary stones. Defects in SLC3A1/SLC7A9 genes coding cystine transporter proteins rBAT/b0,+AT will cause Cystinuria. The current work analyzed the clinical and genetic characteristics of Japanese Cystinuria
Shinichi Sakamoto, Yukio Naya, Junryo Rii, Kazumi Taguchi, Masaaki Fujimura, Yasuhiro Shigeta, Arthit Chairoungdua, Motoi Nishimura, Ken Wakai, Yasutaka Yamada, Xue Zhao, Yusuke Imamura, Sawako Tajima, Natsumi Sato, Chiaki Hosaka, Mizuka Sekine, Takeshi Ueda, Shuzo Hamamoto, Takahiro Yasui, Yoshikatsu Kanai, Koichiro Akakura, Yuzuru Ikehara, Naohiko Anzai, Tomohiko Ichikawa   +23 more
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Declaration: Novel SLC3A1 mutation in a cystinuria patient with xanthine stones: a case report [PDF]

BMC Urology, 2023
Background Cystinuria and xanthinuria are both rare genetic diseases involving urinary calculi. However, cases combining these two disorders have not yet been reported.
Peide Bai, WenZhao Zhang, Longhui Lai, Haichao Huang, Jiaxuan Qin, Bo Duan, Huiqiang Wang, Yuedong Chen, Yuanyuan Jia, Jinchun Xing, Tao Wang, Bin Chen   +11 more
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Partial correction of cystinuria type A in mice via kidney-targeted transposon delivery [PDF]

Molecular Therapy: Nucleic Acids
We used kidney-targeted, non-viral, transposon-mediated gene delivery to express the mouse Slc3a1 transgene in one kidney of cystinuria type A (Slc3a1−/−) mice.
Lauren E. Woodard, Richard C. Welch, Anna Menshikh, Wentian Luo, Felisha M. Williams, Jennifer L. Peek, Feng Sha, Ruth Ann Veach, Aparna Kaja, Thomas M. Beckerman, Talat Alp Ikizler, Matthew H. Wilson   +11 more
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Outcomes of Tiopronin and D-Penicillamine Therapy in Pediatric Cystinuria: A Clinical Comparison of Two Cases [PDF]

Reports
Background and Clinical Significance: Cystinuria is the most common genetic cause of pediatric nephrolithiasis, characterized by impaired renal cystine reabsorption and resulting in increased urinary cystine excretion.
Brooke Schaefer, Adinoyi Garba, Xiaoyan Wu   +2 more
doaj   +2 more sources

Mitochondrial SLC3A1 regulates sexual dimorphism in cystinuria [PDF]

Genes and Diseases
Cystinuria is the most common inheritable cause of kidney stone disease, with males exhibiting a higher susceptibility than females. However, the cellular origin and underlying mechanisms of sex differences in cystinuria remain elusive.
Jingyi Su, Yongdong Pan, Fengbo Zhong, Yi Zhong, Jiaxin Huang, Shengnan Liu, Kaiyuan Wang, Kai Lin, Xiangchen Gu, Dali Li, Qihui Wu, Hongquan Geng, Yuting Guan, Guofeng Xu   +13 more
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Typical course of cystinuria leading to untypical complications in pregnancy: A case report and review of literature [PDF]

Frontiers in Medicine, 2023
Cystinuria is a rare genetic disorder inherited by an autosomal recessive pattern which affects the transmembrane transporter for the base amino acid cystine. It has a general prevalence of 1 in 7000 with demographic variations.
Ema Ivandic, Marjan Maric, Vesna Elvedi-Gasparovic, Margareta Fistrek Prlic, Lovro Lamot, Lovro Lamot, Bojan Jelakovic, Bojan Jelakovic, Ivana Vukovic Brinar, Ivana Vukovic Brinar   +9 more
doaj   +2 more sources