ABSTRACT
<p><b>OBJECTIVE</b>There is a paucity of published works that systematically evaluate gene anomalies or clinical features of patients with renal cysts and diabetes syndrome (RCAD)/maturity onset diabetes of the young type 5 (MODY5). The purpose of this review was to systematically assess the detection rate, genetic and phenotypic implications of heterozygous autosomal dominant TCF2 anomalies.</p><p><b>DATA SOURCES</b>MEDLINE database was searched to select articles recorded in English from 1997 to 2008. The focus was monoallelic germline TCF2 gene mutations/deletions. Biallelic inactivation, polymorphisms, DNA modification (hypomethylation and hypermethylation), loci associated with cancer risk, and somatic TCF2 anomalies were all excluded.</p><p><b>STUDY SELECTION</b>After searching the literature, 50 articles were selected.</p><p><b>RESULTS</b>The detection rate of TCF2 anomalies was 9.7% and varied considerably among MODY (1.4%), renal structure anomalies (RSA) (21.4%) and RSA with MODY (41.2%) subgroups. Mutations were strikingly located within the DNA binding domain and varied among exons of the DNA binding domain: exons 2 and 4 were the hottest spots, while mutations were sporadically distributed in exon 3. The consistent phenotypes were RSA (89.6%) and diabetes mellitus (DM) (45.0%). However, the concurrence of RSA and DM was relatively low (27.5%), which hinders the optimal performance of genetic testing and obtainment of timely diagnosis. Other organ involvements were complementary and necessary for the early identification of patients with TCF2 anomalies. Analysis of phenotypes of TCF2 point mutations showed significant differences in the detection rates of RSA, impaired renal function (IRF) and DM according to mutation type but not mutation location.</p><p><b>CONCLUSION</b>These valuable features of TCF2 anomalies that previously did not receive sufficient attention should not be neglected.</p>
Subject(s)
Humans , Central Nervous System Diseases , Metabolism , Dental Enamel , Congenital Abnormalities , Metabolism , Diabetes Mellitus , Metabolism , Diabetes Mellitus, Type 2 , Metabolism , Hepatocyte Nuclear Factor 1-beta , Metabolism , Kidney Diseases, Cystic , MetabolismABSTRACT
Objective：To study the clinical and pathologic features of patients with lupus nephritis (LN) whose myeloperoxidase anti-neutrophil cytoplasmic antibody (MPO-ANCA) were positive. Methods：The clinical and pathological features were analyzed in 18 patients with LN whose MPO-ANCA were positive. And the data of patients with different clinical outcomes were compared. Results：（1）The hematological abnormalities, hypertension and serositis in these patients were more common than general ones with LN. （2）Proteinuria and hematuria were common, the morbidities of gross hematuria and renal failure in these patients were higher than general ones with LN.（3）Various autoantibodies were positive in these patients.（4）Segmental necrosis crescentic nephritis accompanied by density of immunocomplex in glomeruli and vasculitis in intestitium were common.（5）The morbidity of ESRF and mortality of these patients were similar to general ones with LN. The morbidity of tubular atrophy in those with poor prognosis was significantly higher than those survived. Conclusion：The patients with LN whose MPO-ANCA are positive have some difference from those with negative MPO-ANCA, but positive MPO-ANCA is not directly related to the prognosis.
ABSTRACT
Objective：To study the clinical and pathologic features of patients with lupus nephritis (LN) whose myeloperoxidase anti-neutrophil cytoplasmic antibody (MPO-ANCA) were positive. Methods：The clinical and pathological features were analyzed in 18 patients with LN whose MPO-ANCA were positive. And the data of patients with different clinical outcomes were compared. Results：（1）The hematological abnormalities, hypertension and serositis in these patients were more common than general ones with LN. （2）Proteinuria and hematuria were common, the morbidities of gross hematuria and renal failure in these patients were higher than general ones with LN.（3）Various autoantibodies were positive in these patients.（4）Segmental necrosis crescentic nephritis accompanied by density of immunocomplex in glomeruli and vasculitis in intestitium were common.（5）The morbidity of ESRF and mortality of these patients were similar to general ones with LN. The morbidity of tubular atrophy in those with poor prognosis was significantly higher than those survived. Conclusion：The patients with LN whose MPO-ANCA are positive have some difference from those with negative MPO-ANCA, but positive MPO-ANCA is not directly related to the prognosis.