Petrarulo F

Identification of GLA gene deletions in Fabry patients by Multiplex Ligation-dependent Probe Amplification (MLPA)

Fabry disease is an under-recognized X-linked lysosomal disorder, due to alpha-galactosidase A deficiency. Most of the mutations in the GLA gene are detectable using genomic sequencing analysis. However, deletions of one or more exons or deletion encompassing the entire gene are undetectable, especially in heterozygous females. The Multiplex Ligation-dependent Probe Amplification (MLPA) is an efficient tool for discovering these rearrangements. In this study two novel different deletions were detected using MLPA assay on two Fabry patients, both resulted mutation negative by sequencing analysis. These data suggest that this screening should be systematically included in genetic testing surveys of patients with Fabry disease.

Prognosis in Acute Renal Failure Accompanied by Jaundice

The mortality rate of 67 sequential cases of acute renal failure (ARF) accompanied by jaundice was compared with the mortality rate of 168 patients without jaundice. The mortality rate in the group of jaundiced patients was 57%, significantly greater (p less than 0.05) than the 42% mortality in patients without jaundice. The mortality rate correlated with serum bilirubin levels; patients with serum bilirubin greater than 20 mg% had a mortality rate of 85%, whereas patients with levels lower than 10 mg% had a mortality rate of only 33%. Average blood pressures were significantly lower (p less than 0.01) in patients with jaundice than in those without. The data indicate that: (1) ARF accompanied by jaundice carries a worse prognosis; (2) reduced blood pressure which accompanies this condition may be an aggravating factor, and (3) serum bilirubin levels may be used as a prognostic index.