Generalized arterial calcification of infancy (GACI) (OMIM no. 208000) is characterized by calcification of the major arteries and soft tissues and associated with mutations in the ENPP1 gene. Most affected patients die within the first 6 months of life although prolonged survival is increasingly recognized. We report on three siblings with GACI and striking phenotypic variability. Two siblings (including the sibling survivor) were compound heterozygotes for mutations in exon 7 (c.783C>G (p.Y261X)) and exon 8 (c. 878_879delAA (p.K293fsX5)) of the ENPP1 gene confirming the diagnosis of GACI. The sibling survivor did not have calcification on X-ray studies or evidence of hypophosphatemic rickets. GACI may be under recognized and we emphasize consideration of this condition in patients with multiple arterial stenosis even in the absence of radiographic calcification. This adds to the expanding phenotype of GACI and supports a potential role for modifying genes.
Intraabdominal complications occur in almost 1 in 5 pediatric renal transplant recipients. Weight <15kg and previous abdominal surgery are risk factors for developing such complications.
Updated guidelines on the diagnosis of acute allograft rejection including criteria for biopsy specimen adequacy were published in 1999. We sought to determine the adequacy of specimens in paediatric transplant patients and identify factors influencing adequacy. All renal transplant biopsies performed between 1998 and 2003 were classified as adequate (n =25), minimal (n =19) or inadequate (n =27) in accordance with the Banff 97 criteria, and the histological diagnoses were documented. The effect on specimen adequacy of grade of operator, method of sedation, age of child, needle gauge, number of cores and total core length was then investigated. Overall, a minimal or adequate specimen was obtained in 62% of cases. No histological diagnosis could be made in 30% of all specimens, just over half of which were inadequate. Higher rates of rejection were found in adequate (52%) than inadequate (33%) samples. The grade of operator (p =0.498), the age of the child at the time of biopsy (p =0.815) and type of sedation (p =0.188) did not affect adequacy. More than one core was obtained in 38 (54%) cases, and this was significantly associated with specimen adequacy (p <0.0005) as was longer total core length (p =0.002). Clinical features in isolation are not sufficient for the diagnosis of acute allograft rejection. Renal biopsy remains the gold standard and relies on adequate specimen collection. Our data shows that specimen adequacy according to the Banff 97 guidelines is achievable in children and that more than one core at the time of sampling significantly improves this achievement. Adequate sampling reduces the risk of an inconclusive histological diagnosis.
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