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Background: ABO blood type incompatibility between a donor and recipient is generally considered a contraindication to kidney transplantation. Case characteristics: A 12-yearold boy presented with end stage renal disease (blood group B), with the only healthy available donor being mother (blood group AB). The child received renal transplant with mother as the donor, with a designed desensitization and immunosuppressive protocol. Observation: At 6 months, child is doing well, with stable graft function. Message: ABOincompatible kidney transplantation is a valid alternative for children with end stage renal disease. This is the first report from India of a Pediatric ABO incompatible renal transplant.
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Objective: To determine the incidence, risk factors and outcomes of acute kidney injury in children undergoing cardiac surgery for congenital heart disease. Methods: We enrolled 208 patients undergoing cardiac surgery for congenital heart disease during January 2012 to March 2013. Acute kidney injury was defined as per Acute Kidney Injury Network criteria. Results: Twenty patients had Acute kidney injury; 14 were infants. Age <1 yr, cardiopulmonary bypass time, prolonged ventilator requirement, pump failure, sepsis and hematological complications were identified as independent risk factors for any degree for acute kidney injury. All patients with acute kidney injury recovered the kidney function at the time of discharge. Conclusions: Acute kidney injury is common in children after cardiac surgery, especially in infants.
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Distal renal tubular acidosis (RTA) with sensorineural deafness is a rare entity, inherited in an autosomal recessive manner. It is caused by mutations in the ATP6V1B1 gene, leading to defective function of H+-ATPase pump in the distal nephron, cochlea and endolymphatic sac. We report two siblings with distal RTA and sensorineural deafness having mutation C>T in the first coding exon of the gene, resulting in a non functional protein. The parents were found to be carriers for the mutation.
Assuntos
Acidose Tubular Renal/genética , Acidose Tubular Renal/sangue , Perda Auditiva Neurossensorial/sangue , Perda Auditiva Neurossensorial/genética , ATPases Translocadoras de Prótons/sangue , ATPases Translocadoras de Prótons/genética , ATPases Vacuolares Próton-Translocadoras/genética , Lactente , Pré-Escolar , Feminino , HumanosRESUMO
Primary hyperoxaluria type 1 [PH1] is an autosomal recessive disorder caused by a deficiency of alanine-glyoxylate aminotransferase AGT, which is encoded by the AGXT gene. We report an Indian family with two affected siblings having a novel mutation in the AGXT gene inherited from the parents. The index case progressed to end stage renal disease at 5 months of age. His 4 month old sibling is presently under follow up with preserved renal function.
Assuntos
Oxalato de Cálcio/análise , Galactosiltransferases/genética , Feminino , Humanos , Hiperoxalúria Primária/complicações , Hiperoxalúria Primária/genética , Lactente , Rim/química , Masculino , Nefrocalcinose/complicações , Nefrocalcinose/genética , Mutação Puntual/genéticaRESUMO
Liver abscess is a rare condition in neonates and its diagnosis requires a high degree of suspicion. CT scan and ultrasound are the most sensitive diagnostic modalities for detecting hepatic abscess. Portal vein thrombosis and cavernoma formation are rare complications following neonatal liver abscess and sepsis. We describe the case of two neonates with hepatic abscess following umblical vein catheterisation, with rare complications of portal vein thrombosis and portal vein cavernoma formation. Therefore, unreserved caution should be exercised in performing umbilical cannulation in neonates due to the inherent risks involved with this procedure.