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Objective: Rare disease. Background: Complement-mediated thrombotic microangiopathy (cTMA), is a genetic disease that results when an unchecked alternative complement pathway is triggered by an external factor, resulting in endothelial cell injury with microangiopathic hemolytic anemia, thrombocytopenia, and acute renal failure, though other organ systems may be involved. Case Report: A 5-year-old girl presented with non-bloody diarrhea, hemolysis, renal failure, and thrombocytopenia. She was negative for Shiga toxin. She was diagnosed with cTMA, and this diagnosis was confirmed later by a mutation in the complement factor H (CFH) gene. The patient was started on eculizumab 8 weeks after onset of symptoms. A month later, she was able to stop hemodialysis. Eculizumab was given for a year, and then, because of clinical remission, was stopped. At the time of stopping hemodialysis, serum creatinine was 2.07 mg/dL; at the end of eculizumab therapy, it was 1.23 mg/dL. Now, 10 years later, it is 1.10 mg/dL. Glomerular filtration rate by Schwartz equation was 52 mL/min/1.73 m2 after eculizumab and 60 mL/min/1.73 m2 currently. The cTMA lab parameters normalized after 2 doses of eculizumab and have remained normal for 10 years. Two years ago, on routine ultrasound, renal cysts were noted. Recent genetic testing re-confirmed the CFH mutation and additionally showed a polycystic kidney disease (PKD1) mutation. Notably, there is no family history of either. Currently, the patient has mild proteinuria. Conclusions: Instead of lifelong eculizumab treatment, we successfully managed the patient's condition with a year of eculizumab and intensive followup on sixty occasions over a decade. This approach can work if there are no relapses. Genetic tests revealed mutations for cTMA and autosomal dominant polycystic kidney disease (ADPKD)/PKD1 in the same patient. These have not been reported before, to the best of our knowledge. [ABSTRACT FROM AUTHOR]

Patient: Male, 12-year-old Final Diagnosis: Colonic perforation Symptoms: Rectal prolapse Medication: -- Clinical Procedure: Surgery removal Specialty: Nephrology Objective: Unusual clinical course Background: Peritoneal dialysis (PD) has benefits over hemodialysis (HD), including the ability of daily performance at home without interfering with important activities such as school attendance in children. However, there are risks and complications associated with it. This is the third pediatric case report of a dormant PD catheter tip perforating the colon and protruding through the anus, but without peritonitis, as would be highly expected. Case Report: A 12-year-old male with ESRD secondary to obstructive uropathy received a pre-emptive deceased donor kidney transplant that failed within a few days due to thrombosis secondary to factor V Leiden deficiency. Transplant nephrectomy was performed and several months later he was started on PD. Subsequently, due to multiple episodes of catheter drain failure, the modality was switched to HD with a plan to remove the PD catheter later. Two months after discontinuing PD, he presented to the Emergency Department with the catheter tip protruding through the anus and he was asymptomatic. Abdominal X-ray (AXR) and CT scans were performed. The PD catheter was removed and the colon was repaired by proctosigmoidoscopy and laparotomy. Five years later, he continues to be on HD by preference, with arteriovenous fistula (AVF), without any complications of perforation. Conclusions: There are 2 cases previously reported in children with colonic perforation by the tip of a PD catheter without signs and symptoms of peritonitis, but those patients were on immunosuppression after kidney transplant. Our patient is unique because he was not on immunosuppression. [ABSTRACT FROM AUTHOR]