A Rare Case of Acquired Fanconi's Syndrome With Monoclonal Gammopathy in an Infant.

BACKGROUND: Monoclonal gammopathies associated with acquired Fanconi's syndrome (AFS) have been reported in the adult population. AFS is characterized by renal dysfunction resulting in proteinuria, aminoaciduria, hypophosphatemia, glucosuria, and hyperchloremic metabolic acidosis. In this case report, we document the clinical and laboratory findings of a preterm infant with features of both AFS and monoclonal gammopathy in the urine. METHODS: Clinical suspicion of AFS prompted the following laboratory studies to be performed: urine protein electrophoresis (UPEP), urine immunofixation, and urine amino acid analysis with high performance liquid chromatography (HPLC). RESULTS: Urine amino acid analysis revealed aminoaciduria. On UPEP, nonselective glomerular proteinuria was seen with a faint band in the gamma region. Urine immunofixation confirmed the presence of a monoclonal IgG lambda component with free monoclonal lambda light chains. CONCLUSION: To the best of our knowledge, this is the first case of pediatric AFS reported with a monoclonal gammopathy and monoclonal free light chains.

Exploring New Ways to Deliver Value to Healthcare Organizations: Algorithmic Testing, Data Integration, and Diagnostic E-consult Service.

As the USA Health Care System undergoes transformation and transitions to value-based models it is critical for laboratory medicine/clinical pathology physicians to explore opportunities and find new ways to deliver value, become an integral part of the healthcare team. This is also essential for ensuring financial health and stability of the profession when the payment paradigm changes from fee-for-service to fee-for-performance. About 5 years ago we started searching for ways to achieve this goal. Among other approaches, the search included addressing the laboratory work-ups for specialists' referrals in the HarrisHealth System, a major safety net health care organization serving mostly indigent and underserved population of Harris County, TX. We present here our experience in improving the efficiency of laboratory testing for the referral process and in building a prototype of a diagnostic e-consult service using rheumatologic diseases as a starting point. The service incorporates algorithmic testing, integration of clinical, laboratory and imaging data, issuing structured comprehensive consultation reports, incorporating all the relevant information, and maintaining personal contacts and an e-line of communications with the primary providers and referral center personnel. Ongoing survey of providers affords testimony of service value in terms of facilitating their work and increasing productivity. Analysis of the cost effectiveness and of other value indicators is currently underway. We also discuss our pioneering experience in building pathology residents and fellows training in integrated diagnostic consulting service.

High false-positive rate for monoclonal gammopathy using capillary electrophoresis (CAPILLARYS 2) alone.

BACKGROUND: Capillary zone electrophoresis (CZE) is a newer method of performing serum protein electrophoresis and is considered to be faster and more efficient than agarose gel method. We decided to evaluate CZE as an efficient screening tool for monoclonal gammopathies, and we began recommending immunofixation studies in cases with such minor/subtle distortions to avoid missing monoclonal gammopathies. METHODS: We evaluated 163 serum protein agarose gel electrophoresis (SPAGE) samples between October and November 2011, and 447 serum protein CZE (SPCZE) samples between January 2012 to February 2012 and August 2012 to September 2012. RESULTS: Immunofixation studies were recommended in 51 of 163 cases (31.3%) performed by SPAGE, and in 274 of 447 cases (61.3%) performed by SPCZE. While using SPAGE, of the 51 cases recommended for immunofixation (24 were performed to date), six cases (25.0%) were positive for monoclonal gammopathy. In contrast, while using SPCZE, of the 274 cases recommended for immunofixation (118 were performed to date), 18 cases (15.2%) were positive for monoclonal gammopathy. Using the SPCZE method, of these 18 cases, five (27.8%) had minor/subtle distortions without obvious peaks. Our recommendation rate for immunofixation studies has thus almost doubled (61.3% vs. 31.3%) with the adoption of SPCZE. Yet, using SPCZE has not translated to detecting more cases of true monoclonal gammopathies. CONCLUSION: Therefore, we conclude that there is a high false-positive rate for monoclonal gammopathy using CE alone.