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PubMed2004

Mutation of SFTPC in infantile pulmonary alveolar proteinosis with or without fibrosing lung disease.

Pulmonary surfactant protein C (SP-C) is a highly hydrophobic peptide produced by type-II alveolar cells through the processing of a high-molecular weight precursor (pro-SP-C), that enhances surface tension and facilitates the recycling of pulmonary surfactant in vitro. Recently, two seemingly dominant-negative mutations of the pro-SP-C-encoding gene (SFTPC, MIM 178620), were reported in families with vertically-inherited interstitial lung disease (Nogee et al. [2001: N Engl J Med 344:573-579]; Thomas et al. [2002: Am J Respir Crit Care Med 165:1322-1328]). We have examined the SP-C protein and its precursor as well as the encoding gene, in a cohort of 34 sporadic or familial cases with unexplained respiratory distress (URD) in which surfactant protein B (SP-B) deficiency related to SFTPB mutation had been ruled out. One patient with complete SP-C deficiency had no detectable mutation of SFTPC. Of the 10 patients with abnormal pro-SP-C processing, as suggested from analysis of broncho-alveolar lavage (BAL) fluid, two distinct heterozygous SFTPC missense mutations were identified. The first, g.1286T > C (p.I73T), was de novo and resulted in progressive respiratory failure with intra-alveolar storage of a granular, protein- and lipid-rich, periodic acid Schiff (PAS)-positive material (pulmonary alveolar proteinosis (PAP)), and interstitial lung disease. The second, g.2125G > A (p.R167Q), was found in two PAP patients from the endogamous white settler population of Réunion Island in which URD has an unexpectedly high prevalence. Since this mutation was diagnosed in subjects from this subpopulation who did not have evidence for lung disease, we propose environmental exposures or modifier genes to play a role in the phenotype, as suggested from murine models lacking the SP-C protein, although we cannot rule out a rare polymorphism, hitherto restricted to that subpopulation. Most remarkably, these observations extend the phenotypic spectrum related to SFTPC mutation from interstitial lung disease to PAP. Notably, the reported mutations do not appear to be dominant negatives. This article contains supplementary material, which may be viewed at the American Journal of Medical Genetics website at http://www.interscience.wiley.com/jpages/0148-7299/suppmat/index.html.

Bronchoalveolar Lavage Fluid↗
PubMed2004

Expression of chemokine and fibrosing factor messenger RNA in the urinary sediment of patients with lupus nephritis.

OBJECTIVE: Lupus nephritis is characterized by intrarenal inflammation. To assess the extent and severity of disease activity and renal involvement, this study examined the expression of transforming growth factor beta (TGFbeta) and monocyte chemoattractant protein 1 (MCP-1) in the urinary sediment of patients with systemic lupus erythematosus (SLE). METHODS: We studied 106 patients with SLE who were classified according to their disease status as those with active disease, those with disease in remission, and those with nonrenal SLE. Ten healthy subjects were used as controls. Lupus activity was assessed by the SLE Disease Activity Index (SLEDAI). If renal biopsy was performed, the histologic activity index and chronicity index were determined, and a morphometry analysis of renal scarring was performed. The urinary expresssion of TGFbeta and MCP-1 messenger RNA (mRNA) was studied by real-time quantitative polymerase chain reaction, and the corresponding protein concentrations of TGFbeta and MCP-1 in the urine were measured by enzyme-linked immunosorbent assay (ELISA). RESULTS: Expression of TGFbeta and MCP-1 mRNA in the urinary sediment was significantly elevated in the active disease group (P < 0.001 for both). These expression levels of TGFbeta and MCP-1 mRNA correlated with the SLEDAI score (TGFbeta r = 0.71, P < 0.001; MCP-1 r = 0.72, P < 0.001), and also significantly correlated with the histologic activity index (TGFbeta r = 0.487, P = 0.004; MCP-1 r = 0.357, P = 0.038). The urinary protein concentration of MCP-1, but not of TGFbeta, correlated with the SLEDAI score (r = 0.66, P < 0.001). However, neither the protein concentration of TGFbeta nor that of MCP-1 as measured by ELISA in the urine correlated with the histologic activity index. CONCLUSION: The measurement of urinary mRNA expression may be a noninvasive method for the assessment of lupus disease activity and the severity of renal involvement in patients with lupus nephritis.

Adult↗
PubMed1981

Retroperitoneal fibroses--an association with hyperuricaemia.

A review of a small series of cases with idiopathic retroperitoneal fibrosis revealed that two of the patients had been under treatment for gout prior to developing retroperitoneal fibrosis. Investigation showed that other patients in the series had hyperuricaemia. Examination of the retroperitoneal fibrotic tissue demonstrated the presence of urate crystals in unusually high numbers. It is suggested that the pathological process of retroperitoneal fibrosis in these cases may have been initiated by the deposition of urate crystals in the retroperitoneal connective tissue and that the same process may be related to the causation of idiopathic hydrocoele.

Adult↗
PubMedDate not supplied

Cervical manifestations of fibrosing mediastinitis: a diagnostic and therapeutic dilemma.

Fibroinflammatory and fibrosclerosing lesions involving the head and neck outside the thyroid and orbit are exceedingly rare. We present two cases of fibroinflammatory and fibrosclerosing lesions originating in the mediastinum which extended superiorly to involve soft tissues of the neck. These cases indicate that a subset of fibroinflammatory and fibrosclerosing lesions found in the head and neck originate in the mediastinum.

Adult↗