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Blunt abdominal injury with kidney laceration is not unusually seen in high-energy traffic accident. It can present with no symptoms and yet lead to fatal complications. High-grade lacerations of kidney (American Association for the Surgery of Trauma [AAST] grade IV to V) will show up with contrast extravasation and disrupted kidney/pelvicalyceal system morphology in computed tomography (CT). However, it is rare to see kidney dislocation from retroperitoneal space because of the presence of the Gerota's fascia. We present a case of a 16-year-old boy suffering from traffic accident with blunt truncal/abdominal injury. The contrast CT of abdomen revealed that his left kidney was dislocated from the original retroperitoneal space and sagged to the lower retroperitoneal cavity. We performed emergency left nephrectomy. He recovered well and there was no complication noted after the surgical intervention. We also review the literature of kidney laceration regarding diagnosis and treatment. (Hong Kong j.emerg.med. 2016;24:176-179)

Blunt abdominal injury with kidney laceration is not unusually seen in high-energy traffic accident. It can present with no symptoms and yet lead to fatal complications. High-grade lacerations of kidney (American Association for the Surgery of Trauma [AAST] grade IV to V) will show up with contrast extravasation and disrupted kidney/pelvicalyceal system morphology in computed tomography (CT). However, it is rare to see kidney dislocation from retroperitoneal space because of the presence of the Gerota's fascia. We present a case of a 16-year-old boy suffering from traffic accident with blunt truncal/abdominal injury. The contrast CT of abdomen revealed that his left kidney was dislocated from the original retroperitoneal space and sagged to the lower retroperitoneal cavity. We performed emergency left nephrectomy. He recovered well and there was no complication noted after the surgical intervention. We also review the literature of kidney laceration regarding diagnosis and treatment. (Hong Kong j.emerg.med. 2016;24:176-179)

To investigate the biosynthesis of the glycosylphosphatidylinositol (GPI) anchor in the granulocytes of paroxysmal nocturnal hemoglobinuria (PNH), the glycolipids of granulocytes from PNH patients and normal volunteers were biosynthetically labeled with [3H]mannose in the presence of tunicamycin. Extracted glycolipids were examined by thin- layer chromatography and compared with known biosynthetic intermediates. Normal granulocytes consistently showed [3H]mannose incorporation into the complete GPI core, several GPI biosynthetic intermediates, and dolichol phosphate mannose (DPM). The granulocytes of 10 patients with PNH that had no expression of CD55 and CD59 on greater than 95% of the cells were able to incorporate [3H]mannose into DPM, but were not able to incorporate detectable amounts into the complete GPI core. THus, PNH granulocytes do not synthesize detectable amounts of the complete GPI core and this defect likely accounts for the absence of GPI-linked membrane proteins on hematopoietic cells in this syndrome.

Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematologic disorder that affects both sexes equally. The biochemical defect in PNH resides in the incomplete enzymatic assembly of glycosylphosphatidylinositol (GPI) anchors used for surface protein attachment. In all PNH patients tested to date, the biosynthetic defect occurs at the addition of N-acetyl-glucosamine to the phosphatidylinositol molecule (class A defect). A human cDNA, Piga, that repairs cell lines with the class A GPI-anchor biosynthetic defect has been recently cloned. Mapping of Piga to the X chromosome suggests that a single acquired mutation within Piga could alter GPI-anchor synthesis and result in PNH. However, this finding does not explain why all PNH patients have the class A defect. In the current study, the chromosomal assignment of Piga, as well as of Pigf and Pigh, two additional genes involved in GPI-anchor biosynthesis, has been established using a mouse interspecific backcross mapping technique. In contrast to Piga, both human and mouse Pigf and Pigh genes map to autosomes. The location of Pigf and Pigh suggests that mutations on both alleles of these autosomal genes would be necessary to produce PNH. This helps to explain the predominant class A defect in PNH.

The defect in the biosynthesis of the glycosyl-phosphatidyl inositol (GPI) anchor in paroxysmal nocturnal hemoglobinuria (PNH) appears to be in the initial steps. In biosynthetic studies using [3H]mannose, abnormal granulocytes of eight patients, and B lymphocytes transformed by Epstein-Barr virus of six different patients synthesized dolichyl phosphoryl mannose, but little or no later mannosylated intermediates. When fused with murine cell lines known to be deficient at different biosynthetic steps of the GPI anchor, the GPI-anchor-deficient granulocytes of 21/21 patients and lymphocytes from 6/6 patients complemented all murine cell lines except those of class A; cells of this class are not able to add N-acetylglucosamine to phosphatidylinositol. These studies indicate that the defect in GPI- anchor synthesis in PNH is early in the pathway, and is the same as that of class A mutants, but may be partial in some patients, resulting in the production of small amounts of mannosylated intermediates.