Improved Renal Recovery with Eculizumab Therapy among Children with High Prevalence of Mutation-Associated Atypical Hemolytic Uremic Syndrome: A Retrospective Cohort Study.

INTRODUCTION: Genetic defects that determine uncontrolled activation of the alternative complement pathway have been well documented, which account for approximately 40-60% of atypical hemolytic uremic syndrome (aHUS) cases worldwide. In Saudi Arabia, nearly half of the marriages are consanguineous, resulting in a high prevalence of such genetic diseases. Recent studies have demonstrated the effectiveness of eculizumab against aHUS. OBJECTIVE: We report our experience of using plasma therapy or/and eculizumab to treat children with aHUS in a tertiary care center in Saudi Arabia and to compare their clinical characteristics, genetic mutations, and treatment outcomes. METHODS: A retrospective cohort study was conducted between January 2010 and May 2017. Data, including demographic parameters, clinical presentation, hospital stay duration, need for dialysis, renal recovery, genetic mutations, and outcomes, were obtained from electronic medical records of all eligible patients. RESULTS: Overall, 21 children with aHUS were included, of which 12 (57.1%) received eculizumab therapy and 9 (42.9%) received only plasma therapy. End-stage renal disease occurred in 7 children (33.3%), of which 4 (57.1%) received only plasma therapy and 3 (42.9%) received eculizumab therapy whose genetic mutations were not related to the complement dysregulation system. No child who received eculizumab therapy showed recurrence; however, 3 children (33.3%) who received plasma therapy alone showed recurrence. Genetic mutations were detected in 12/20 (60%) of those who underwent genetic screening. CONCLUSIONS: Children who received eculizumab therapy showed good renal recovery and maintained remission compared with children who received plasma therapy alone. Genetic mutations were detected in 60% of the patients, which was associated with a high prevalence of consanguineous marriages.

Clinical improvement of encapsulating peritoneal sclerosis after challenging course and 6 months of total parenteral nutrition in child with nephronophthisis: a case report.

BACKGROUND: Encapsulating peritoneal sclerosis is a rare but potentially lethal complication of long-term peritoneal dialysis that is associated with significant morbidity and mortality. The occurrence of encapsulating peritoneal sclerosis varies worldwide, but is increased in patients maintained on peritoneal dialysis for 5-8 years. The etiology of encapsulating peritoneal sclerosis remains unidentified, and a high index of clinical suspicion is required for diagnosis. CASE PRESENTATION: We report a 5-year-old Saudi female with end-stage renal disease secondary to nephronophthisis type 2. She underwent peritoneal dialysis for 30 months, with four episodes of peritonitis. She presented with clinical signs of peritonitis. Three days later, she developed septic shock, which required pediatric intensive care unit admission. The peritoneal dialysis catheter was removed because of refractory peritonitis. Her course was complicated by small bowel perforation, and severe adhesions were revealed on abdominal ultrasound and computed tomography, consistent with a diagnosis of EPS. This finding was later confirmed by diagnostic laparotomy performed twice and complicated by recurrent abdominal wall fistula. She received total parenteral nutrition for 6 months and several courses of antibiotics. The patient received supportive treatment including nutritional optimization and treatment for infection. No other treatments, such as immunosuppression, were administered to avoid risk of infection. Following a complicated hospital course, the patient restarted oral intake after 6 months of total parenteral nutrition dependency. Her abdominal fistula resolved completely, and she was maintained on hemodialysis for few years before she received a kidney transplant. CONCLUSION: When treating patients using peritoneal dialysis, it is important to consider encapsulating peritoneal sclerosis with refractory peritonitis, which is not always easy to identify, particularly if the patient has been maintained on peritoneal dialysis for less than 3 years. Early identification of encapsulating peritoneal sclerosis and appropriate conservative treatment, including nutritional optimization and treatment of infections, are essential to achieve a better prognosis.

A case of pediatric gastrointestinal basidiobolomycosis mimicking Crohn`s disease. A review of pediatric literature.

Basidiobolomycosis is a rare fungal infection caused by basidiobolus ranarum. The vast majority of gastrointestinal basidiobolomycosis cases were reported from tropical and subtropical regions. We report a Saudi pediatric patient with ileal basidiobolomycosis and initial clinical presentation mimicking acute appendicitis before being misdiagnosed as Crohn's disease. Our case is the first to report effective treatment of pediatric gastrointestinal basidiobolomycosis using voriconazole mono-therapy. In addition, we present extensive review of pediatric gastrointestinal basidiobolomycosis in medical literature.