iPS Cell Advanced Characterization and Development Team, BioResource Research Center, RIKEN, 3-1-1 Koyadai, Tsukuba, Ibaraki 305-0074, Japan. Electronic address:
Published: May 2020
AI Article Synopsis
Article Abstract
Juvenile nephronophthisis is an inherited renal ciliopathy, causing cystic kidney disease, renal fibrosis, and end-stage renal failure. Human induced pluripotent stem cell (hiPSC) lines, derived from two Juvenile nephronophthisis patients, were generated from peripheral blood mononuclear cells by episomal plasmid vectors. Generated hiPSC lines showed self-renewal and pluripotency and carried a large deletion in NPHP1 (Nephrocystin 1) gene. Since the molecular pathogenesis caused by NPHP1 dysfunction remains unclear, these cell resources provide useful tools to establish disease models and to develop new therapies for juvenile nephronophthisis.
Paediatric Nephrology Centre, Hong Kong Children's Hospital, Hong Kong SAR; Department of Paediatrics, Chinese University of Hong Kong, Shatin, Hong Kong SAR. Electronic address:
Background: Nephronophthisis (NPH) comprises a heterogeneous group of inherited renal ciliopathies clinically characterized by progressive kidney failure. So far, definite diagnosis is based on molecular testing only. Here, we studied the feasibility of NPHP1 and NPHP4 immunostaining of nasal epithelial cells to secure and accelerate the diagnosis of NPH.
Juvenile nephronophthisis is an inherited renal ciliopathy with cystic kidney disease, renal fibrosis, and end-stage renal failure in children and young adults. Mutations in the gene encoding nephrocystin-1 protein have been identified as the most frequently responsible gene and cause the formation of cysts in the renal medulla. The molecular pathogenesis of juvenile nephronophthisis remains elusive, and no effective medicines to prevent end-stage renal failure exist even today.
Background: Nephronophthisis (NPHP) is an autosomal recessive disorder with a subset of patients presenting with extrarenal manifestations such as retinal degeneration, cerebella ataxia, liver fibrosis, skeletal abnormalities, cardiac malformations, and lung bronchiectasis. However, the involvement of other organ systems has also been documented. Extrarenal manifestations occur in approximately 10-20% of patients.
A 24-year-old male with a history of juvenile nephronophthisis underwent renal transplantation at 12 but needed dialysis at 18 due to chronic rejection and hypertension.
He developed severe Hidradenitis Suppurativa (HS), which remained resistant to multiple treatments, including antibiotics and Adalimumab, the latter being stopped due to heart concerns following COVID-19.
After switching to secukinumab therapy, the patient experienced significant improvements in quality of life and HS symptoms within 5 weeks, with continued benefits noted at the 6-month follow-up, and the treatment was well tolerated with no adverse effects.
