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Senior Løken syndrome (SLS) is a heterogeneous disorder characterized by severe retinal degenerations and juvenile-onset nephronophthisis. Genetic variants in ten different genes have been reported as the causes of SLS. Clinical evaluation of a patient with SLS and her unaffected parents revealed that the patient had infantile-onset retinal dystrophy and juvenile-onset nephronophthisis. Other systemic abnormalities included hepatic dysfunction, megacystis, mild learning disability, autism, obesity, and hyperinsulinemia. Whole-exome sequencing identified compound heterozygous SCLT1 variants (c.1218 + 3insT and c.1631A > G) in the patient. The unaffected parents were heterozygous for each variant. Transcript analysis using reverse transcription PCR demonstrated that the c.1218 + 3insT variant leads to exon 14 skipping (p.V383_M406del), while the other variant (c.1631A > G) primarily leads to exon 17 skipping (p.D480EfsX11) as well as minor amounts of two transcripts (6 bps deletion in the last of exon 17 [p.V543_K544del] and exons 17 and 18 skipping [p.D480E, S481_K610del]). Immunohistochemical analysis demonstrated that the Sclt1 protein was localized to the distal appendage of the photoreceptor basal body, indicating a ciliary protein. In conclusion, we identified compound heterozygous splice site variants of SCLT1 in a patient with a new form of ciliopathies that exhibits clinical features of SLS.

Color Doppler ultrasound measurement of ureteral jet angle represents a simple and noninvasive method that is applicable as a screening tool to detect high grade vesicoureteral reflux in children.

Objectives To evaluate long‐term outcomes and risk factors for graft loss in pediatric kidney transplantation over a 30‐year period. Methods We retrospectively assessed 400 consecutive kidney transplants carried out in 377 children during 1975–2009. Patients were stratified according to the immunosuppressive regimen (era 1: methylprednisolone and azathioprine; era 2: calcineurin inhibitor‐based therapy, including methylprednisolone and azathioprine or mizoribine; era 3: basiliximab induction therapy, including calcineurin inhibitors, methylprednisolone and mycophenolate mofetil). Results The median age and bodyweight at transplantation were 9.7 years and 20.6 kg, respectively. In total, 364 (91.0%) children received a living related donor transplantation. The acute rejection rate within 1 year post‐transplant decreased significantly from 61.0% in era 1 to 14.5% in era 3 (P < 0.001). For transplant eras 1–3, 1‐year graft survival was 81%, 93% and 95%; 5‐year graft survival was 66%, 86% and 93%; and 10‐year graft survival was 47%, 79% and 89%, respectively. The overall 5‐, 10‐ and 20‐year patient survival rates were 96%, 93% and 88%, respectively. A Cox multivariate analysis identified cold ischemia time (hazard ratio 1.385, 95% confidence interval 1.251–1.603), acute rejection (hazard ratio 1.682, 95% confidence interval 1.547–3.842), re‐transplant (hazard ratio 2.680, 95% confidence interval 1.759–3.982) and donor type (hazard ratio 2.957, 95% confidence interval 1.754–4.691) as independent risk factors for graft loss at 10 years post‐transplant. Conclusions The progress of immunosuppressive therapy has led to a low incidence of acute rejection and a high graft survival rate across 30 years of pediatric transplantation.

Background: Ureterosciatic hernia (USH) is a rare benign disease. We report a case of USH treated with laparoscopic intraperitonization of the ureter. Case Presentation: A 70-year-old woman was admitted to our hospital with right abdominal pain lasting for 2 months. CT showed right hydronephrosis and invagination of the right ureter into the right sciatic foramen. She underwent retrograde ureterography, which revealed abnormal tortuosity of the right lower ureter, and was found to have USH. We performed laparoscopic intraperitonization of the ureter and she presented good postoperative course. Conclusion: Laparoscopic intraperitonization of the ureter can be a useful treatment for USH.