PubMed · 14338826
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M L JANOWER. 1965. PSEUDOGOUT.. https://pubmed.ncbi.nlm.nih.gov/14338826/
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Familial tumoral calcinosis is a rare metabolic disorder, characterized by ectopic calcification and hyperphosphatemia. Recently biallelic mutations in the GalNAc transferase 3 (GALNT3) gene were identified in two families with tumoral calcinosis. In the present study, we performed mutation analysis of the GALNT3 gene in a multigenerational family, which was originally described to have an autosomal dominant form of tumoral calcinosis. We identified a novel splice site mutation in intron 1 (IVS1-2a-->t), likely leading to skipping of exon 2. The proband was a compound heterozygote for the splice site mutation and the previously reported nonsense mutation (484C-->T; R162X). His affected maternal great uncle was homozygous for the splice site mutation. Biallelic mutations found in two generations demonstrated that the family had pseudoautosomal dominant inheritance, confirming that tumoral calcinosis is in fact an autosomal recessive trait. However, genetic and biochemical findings suggest that carriers of a single mutation may also manifest subtle biochemical abnormalities. Furthermore, coexpression of GALNT3 and fibroblast growth factor 23 (FGF23), a key regulator of phosphate homeostasis, in certain tissues suggests that O-glycosylation of FGF23 by GALNT3 may be necessary for proper function of FGF23.
CONTEXT: Main pancreatic duct stones may contribute to pain in chronic pancreatitis. Extracorporeal shock wave lithotripsy (ESWL) has been used alone or in combination with endoscopic therapy for fragmentation of stones. Published studies have shown mixed efficacy due to small sample size. OBJECTIVE: Systematic analysis of all published data evaluating ESWL with or without endoscopic therapy in pancreatic duct clearance and symptom relief. METHODS: Two investigators independently reviewed the computer databases. 31 potential studies were identified. Only studies using ESWL with or without endoscopic therapy were included. Completeness of the search was confirmed by an expert. Studies were independently coded by two investigators and differences rectified by mutual consent. MAIN OUTCOME MEASURES: Pain at follow-up and duct clearance. RESULTS: Seventeen studies published between 1989 and 2002 were included. Sixteen had a measure of pain at follow-up and duct clearance. All studies were case series with a total of 588 subjects, and included varying number of subjects undergoing endoscopic pancreatic sphincterotomy and stone extraction. The mean effect size (weighted correlation coefficient) for pain was 0.6215 and for duct clearance was 0.7432; thus indicating a large effect. All studies showed homogeneity suggesting similar effect size irrespective of the combinations of therapy. CONCLUSIONS: ESWL is effective in clearance of stones from the pancreatic duct and in relief of pain. Published studies showed homogeneity of the effect size of ESWL both in pancreatic duct clearance and relief of pain.
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