Nephrology

doi: 10.1111/nep.13898pmid: N/A

Li, Philip Kam‐Tao; Lu, Wanhong; Mak, Siu‐Ka; Boudville, Neil; Yu, Xueqing; Wu, Ming Ju; Cheng, Yuk‐Lun; Chan, Christopher T.; Goh, Bak Leong; Tian, Na; Chow, Kai Ming; Lui, Sing Leung; Lo, Wai Kei

doi: 10.1111/nep.14042pmid: 35393750

Peritoneal dialysis (PD) first policy has been established in Hong Kong since 1985. After 35 years of practice, the PD first policy in Hong Kong has influenced many countries around the world including governments, health ministries, nephrologists and renal nurses on the overall health policy structure and clinical practice in treating kidney failure patients using PD as an important dialysis modality. In 2021, the International Association of Chinese Nephrologists and the Hong Kong Society of Nephrology jointly held a symposium celebrating the 35 years of PD first policy in Hong Kong. In that symposium, experts and opinion leaders from around the world have shared their perspectives on how the PD first policy has grown and how it has affected PD and home dialysis practice globally. The advantages of PD during COVID‐19 pandemic were highlighted and the use of telemedicine as an important adjunct was discussed in treating kidney failure patients to improve the overall quality of care. Barriers to PD and the need for sustainability of PD first policy were also emphasized. Overall, the knowledge awareness of PD as a home dialysis for patients, families, care providers and learners is a prerequisite for the success of PD first. A critical mass of PD regional hubs is needed for training and mentorship. Importantly, the alignment of policy and clinical goals are enablers of PD first program.

Hanafusa, Norio; Tu, Charlotte; McCullough, Keith; Bieber, Brian; Pisoni, Ronald L.; Robinson, Bruce M.; Hasegawa, Takeshi; Nangaku, Masaomi

doi: 10.1111/nep.14046pmid: 35442547

Koh, Timothy; Ooi, Xi Yan; Vasoo, Shawn; Yeo, See Cheng

doi: 10.1111/nep.14084pmid: 35904135

Guo, Wencong; Shao, Yingfei; Lang, Yanhua; Wang, Hong; Lin, Yi; Liu, Xuyan; Zhang, Ruixiao; Shao, Leping

doi: 10.1111/nep.14086pmid: 35960161

BCS1L pathogenic variants cause widely different clinical phenotypes. Disease phenotypes can be as mild as Björnstad syndrome, characterized by pili torti (abnormal flat twisted hair shafts) and sensorineural hearing loss, or as severe as GRACILE syndrome, characterized by growth restriction, aminoaciduria, cholestasis, iron overload, lactic acidosis and early death. BCS1L pathogenic variants are also linked to an undefined complex III deficiency, a heterogeneous condition generally involving renal and hepatic pathologies, hypotonia, and developmental delays. So far, all patients with GRACILE syndrome carry a homozygous p.Ser78Gly variant in BCS1L gene by reviewing articles. A 24‐day‐old boy presented with typical clinical phenotype of GRACILE syndrome. The Whole Exome Sequencing confirmed that the patient had a missense variant (c.245C > T, p.Ser82Leu) and a small deletion (c.231_232delCA, p. Ser78Cysfs*9) in BCS1L gene inherited from his father and mother separately, he died at 5 months of age. We reported a patient with GRACILE syndrome and identified two novel variants in BCS1L gene. Our study expands the mutational spectrum of BCS1L gene associated with GRACILE syndrome and will be beneficial for genetic diagnosis.

Tangwonglert, Theerasak; Davenport, Andrew

doi: 10.1111/nep.14071pmid: 35665987

Napier, Kathryn; Lim, David; Thomas, Elizabeth; Boyd, James; Chakera, Aron; Williamson, James; Betts, Kim; Manuel, Justin; Tuando, Teodulo Rey; Robinson, Suzanne

doi: 10.1111/nep.14083pmid: 36122908

Colombijn, Julia M. T.; Vonk, Sanne; Cornelis, Tom; Boorsma, Siska; Krekels, Marielle M. E.; Abrahams, Alferso C.; Jaarsveld, Brigit C.

doi: 10.1111/nep.14088pmid: 36122909

Koh, Deanna Xiuting; Chen, James Jianhong; Lee, Martin Yong Kwong; Tan, Chieh Suai; Tan, Elizabeth Wan Ling; Chong, Si Jack; Dan, Yock Young

doi: 10.1111/nep.14082pmid: 35946532