Tyrosinemia type 1 in pediatric nephrology: Not always straightforward

The main clinical features of tyrosinemia type 1 usually appear in the first months of life, including fever, diarrhea, vomiting, liver involvement, growth failure, and renal proximal tubulopathy with subsequent hypophosphatemic rickets. An early diagnosis is crucial in order to provide specific management and to prevent complications. Here, we report on two cases referred primarily to pediatric nephrologists for the diagnosis of “neonatal tubulopathy” and management of “X-linked hypophosphatemia (XLH),” respectively. Our aim is to emphasize that (1) even a mixed tubulopathy can reveal tyrosinemia, and (2) tyrosinemia is a classic differential diagnosis of XLH that should not be forgotten, especially in the era of the anti-FGF23 burosumab.     

Rapid identification of atypical variant of plasma butyrylcholinesterase by PCR.

Human butyrylcholinesterase is the enzyme responsible of mivacurium and succinylcholine metabolism, which may be significantly impaired when mutation Asp70Gly is found in patients. We describe a simple PCR method for the detection of this variant. Thirteen out of sixteen patients tested after prolonged apnea were positive for the presence of this mutation (50.0% homozygotes and 31.3% heterozygotes), suggesting that this test contributes to the explanation of some clinical events and to their prevention in relatives of these patients.     

Screening vs. individual detection of industrial fluorosis: a decision analysis model

In preventive medicine and occupational health, decision-makers face uncertainty, divergent opinions, and varying needs. In the Swiss aluminum industry, screening for industrial fluorosis illustrates how decision analysis and cost-effectiveness analysis can provide rational and explicit models of decision-making in such contexts. Data on fluoride-exposed potroom workers are used to compare the cost-effectiveness of two strategies: mass screening of fluorosis versus individual detection of the disease on the basis of the worker's symptoms. A decision-analysis and a sensitivity analysis are performed to assess the impact of the screening program for different levels of expected prevalence of the disease. The optimal decision, in economic terms, is the one that minimizes the pension and screening-related costs and maximizes the number of years of full working capacity. Swiss data suggest that a diagnosis of clinical fluorosis is unlikely before 10 years of exposure to fluoride. Between 10 and 30 years of exposure to fluoride, mass screening may be more cost-effective than individual detection of the disease, even when the expected prevalence of the disease in a given industrial setting is less than 10%.