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BackgroundThe rare lysosomal storage disease nephropathic cystinosis presents with renal Fanconi syndrome that evolves in time to CKD. Although biochemical abnormalities in common causes of CKD–mineral and bone disorder have been defined, it is unknown if persistent phosphate wasting in nephropathic cystinosis is associated with a biochemical mineral pattern distinct from that typically observed in CKD–mineral and bone disorder.MethodsWe assessed and compared determinants of mineral homeostasis in patients with nephropathic cystinosis across the predialysis CKD spectrum to these determinants in age- and CKD stage-matched patients, with causes of CKD other than nephropathic cystinosis.ResultsThe study included 50 patients with nephropathic cystinosis-related CDK and 97 with CKD from other causes. All major aspects of mineral homeostasis were differentially effected in patients with CKD stemming from nephropathic cystinosis versus other causes. Patients with nephropathic cystinosis had significantly lower percent tubular reabsorption of phosphate and fibroblast growth factor-23 (FGF23) at all CKD stages, and lower blood phosphate in CKD stages 3–5. Linear regression analyses demonstrated lower FGF23 levels in nephropathic cystinosis participants at all CKD stages when corrected for eGFR and age, but not when adjusted for serum phosphate.ConclusionsNephropathic cystinosis CKD patients have mineral abnormalities that are distinct from those in CKD stemming from other causes. Persistently increased urinary phosphate excretion maintains serum phosphate levels within the normal range, thus protecting patients with nephropathic cystinosis from elevations of FGF23 during early CKD stages. These findings support the notion that phosphate is a significant driver of increased FGF23 levels in CKD and that mineral abnormalities associated with CKD are likely to vary depending on the underlying renal disease.

(2013) The estimation of visceral adipose tissue with a body composition monitor predicts the metabolic syndrome. J Hum Nutr Diet. 26 (Suppl. 1), 154-158 doi:10.1111/jhn.12089 Abstract Background: Central obesity has a higher risk of the metabolic syndrome (MetS) and cardiovascular diseases. It is estimated by measuring waist circumference (WC) and waist-to-hip ratio (WHR), which are operator-dependent. The present study aimed to validate a body composition monitor (BCM) as a tool for estimating visceral adipose tissue (VAT), as well as to assess its capacity to predict the MetS and its correlation with anthropometric parameters. Methods: We measured WC, WHR and body mass index (BMI) in 60 recruited subjects. BCM estimated VAT (1-30 points). Body composition and resting energy expenditure (REE) were compared with bioelectrical impedance analysis (BIA) and indirect calorimetry, respectively. VAT was estimated by BCM (range 1-30 points), We evaluated the capability of VAT, WC, BMI and WHR to predict the MetS by ATP-III criteria. Results: The mean (SD) age of subjects was 36.8 (12.9) years, 80% were female, and 47% had the MetS. Body composition and REE estimated by BCM had a significant correlation with BIA (r = 0.85-0.91, P< 0.001) and REE (r = 0.86, P < 0.001), respectively, even after adjusting by sex. VAT estimation by BCM was positively correlated with WC (r = 0.75, P< 0.001) and WHR (r = 0.61, P < 0.001). The area under the receiver operator characteristic curves to predict the MetS was 0.93 for VAT, 0.81 for WC, 0.76 for WHR and 0.74 for BMI. VAT ! 10 points had a sensitivity of 100% and a specificity of 82% for predicting the MetS. Conclusions: VAT estimation by BCM efficiently predicts the MetS and correlates with anthropometric parameters of central obesity. Its routine use could facilitate cardiovascular risk estimation and follow-up in overweight and obese patients in ambulatory practice.

We here described a 39-year-old woman with a severe chronic mood disorder, refractory to antidepressive therapy who showed a significant improvement after a self-prescription of high doses of liothyronine (T(3)). A modified Refetoff protocol was carried out to study the role of thyroid hormones on her clinical and biochemical responses. Depression severity was assessed by the HAM-D and MADRS Depression Rating Scales. Sequencing of Thyroid Receptors (TR) alpha1 and beta1 genes was done. At the final stage of the study, plasma T3 and free T3 were >800 ng/dl (80-180) and 1409 pg/dl (230-420), respectively. No changes in the cardiovascular parameters, alkaline phosphatase isoenzymes, creatinine kinase, or ferritin were observed. However, an improvement in mood was detected by specific scores (HAM-D 24 to 8; MADRS 40 to 11). No mutations in DNA- and hormone-binding-domains of TRbeta1 and TRalpha1 genes were found in proband, suggesting that the defect could be due to an unknown mutation in either the TR gene or a post receptor abnormality. These results support the existence of a peripheral RTH manifestation as a refractory chronic depression reverted by high doses of T(3). Screening for RTH in refractory chronic depression may provide an alternative treatment for this psychiatric condition.

Hypophosphatemia induced by carboxymaltose iron and imatinib. Report of two casesHypophosphatemia is a relatively frequent and a potentially serious adverse drug effect. Clinically it is characterized by bone pain and muscle weakness. There are several mechanisms by which a drug can induce hypophosphatemia and they can be classified according to whether or not they are mediated by an excess of Fibroblast Growth Factor 23 (FGF23). We report two patients with the condition: (i) A 49-year-old woman with Chronic Myeloid Leukemia (CML) and gastric sleeve surgery at 46 years of age. After receiving intravenous carboxymaltose iron in one occasion due to refractory anemia, she developed symptomatic hypophosphatemia. Urinary phosphate losses associated with high FGF23 levels were confirmed. Plasma phosphate returned to normal values 90 days after the iron administration. (ii) A 40-year-old man with a history of CML in whom imatinib was started. He developed symptomatic hypophosphatemia due to non FGF23-mediated hyperphosphaturia. As treatment with imatinib could not be interrupted, hypophosphatemia and its symptoms resolved with oral phosphate intake. These cases illustrate the importance of recognizing and treating drug-induced hypophosphatemia in a timely manner, and thus avoid the morbidity associated with this entity.