Fanconi Syndrome in an Adult With Chronic Alcohol Use Disorder: A Rare Etiology.

Fanconi syndrome is described as a defect in the proximal tubular reabsorption of glucose, amino acids, uric acid, phosphate, and bicarbonate, falling under type 2 renal tubular acidosis (RTA). Some common causes include drugs, heavy metals, infections, and genetics (particularly mitochondrial disorders).  We present a case of a 33-year-old Caucasian female with chronic alcohol use disorder. She was treated for acute kidney injury (AKI) but had persistent hypophosphatemia, hypokalemia, hypouricemia, low bicarbonate, along with glycosuria consistent with Fanconi syndrome. An exhaustive workup ruled out the most common causes. Alcohol abstinence proved to correct the underlying abnormality.  Alcohol is a mitochondrial toxin, and its role in the pathophysiology of Fanconi syndrome is under investigation. Early diagnosis of Fanconi is imperative to avoid complications such as rickets and osteomalacia. Therefore, testing for markers of alcohol abuse should be considered when determining the etiology of Fanconi syndrome.  Alcohol use disorder is a common disorder, with more than 3 million cases annually in the US alone. Clinicians should have a high index of suspicion for Fanconi syndrome in a patient with similar anomalous labs considering the high prevalence of alcohol use disorder. More research regarding this topic is warranted.

Simultaneous corticosteroid avoidance and calcineurin inhibitor minimization in renal transplantation.

Steroids and calcineurin inhibitors (CNI) have been mainstays of immunosuppression but both have numerous side effects that are associated with substantial morbidity and mortality. This study was carried out to determine if steroids can be eliminated with early discontinuation of cyclosporine A (CsA) and later discontinuation of mycophenolate mofetil (MMF). Ninety-six patients with kidney transplants were entered into four subgroups of two pilot studies. All patients received Thymoglobulin induction, rapamycin (RAPA), and the immunonutrients arginine and an oil containing omega-3 fatty acids. Mycophenolate mofetil was started in standard doses and discontinued by 2 years. CsA was given in reduced doses for either 4, 6, or 12 months. Follow-up was 12-36 months. Thirteen first rejection episodes occurred during the first year (14%). Combining all patients, 86% were rejection-free at 1 year, 80% at 2 years and 79% at 3 years. No kidney has been lost to acute rejection. Ninety percent of the 84 patients at risk at the end of the study were steroid-free and 87% were off CNI. Fifty-seven percent of 54 patients with a functioning kidney at 3 years were receiving monotherapy with RAPA. We conclude that this therapeutic strategy is worthy of a prospective multi-center clinical trial.

The influence of immunomodulatory diets on transplant success and complications.

BACKGROUND: Animal studies have shown that dietary supplementation with arginine and lipids containing the omega-3 and omega-9 fatty acids prolong allograft survival in animals receiving a short course of low-dose cyclosporine. They also reduce cardiovascular complications and infections in humans. METHODS: Adult renal transplant patients receiving standard immunosuppression were stratified according to gender, diabetic state, donor source (LD or CD), and first versus repeat transplant, and randomized to receive or not receive supplemental arginine and canola oil (containing both omega-3 and omega-9 fatty acids) twice daily. Patients were followed for a minimum of 3 years. RESULTS: Seventy-six patients were randomized to the supplement group (S) and 71 patients to the control group (C). Intent-to-treat analysis revealed that S patients had fewer post-30 day first rejection episodes (5.4%) when compared with the C group (23.7%) (P=0.01) and fewer post-30 day episodes of calcineurin inhibitor (CNI) drug toxicity (9.2% vs. 35.3%, P=0.003). S patients developed new onset diabetes mellitus (NODM) less frequently by 3 years (2.3% vs. 14.5%, P=0.04), had fewer cardiac events (5.0% vs. 17.1%, P=0.05), and fewer episodes of sepsis (6.5% vs. 18.7%, P=0.05). CONCLUSIONS: Dietary supplementation with L-arginine and canola oil is a safe, inexpensive, and unique treatment, which is associated with decreased rejection rates and CNI toxicity after the first month in renal transplant patients. Due to reductions in NODM and cardiac events, long-term benefits for patient survival may be particularly important.

Gastric bypass in morbidly obese patients with chronic renal failure and kidney transplant.

BACKGROUND: Morbid obesity occurs frequently in patients with renal failure and is associated with an increased mortality, particularly from cardiovascular disease, as well as a marked increase in comorbid conditions affecting quality of life. Morbid obesity is also associated with an increased risk of complications and death in transplant patients and is often a cause for denial for access to transplantation. METHODS: Thirty morbidly obese patients with chronic renal failure or transplantation underwent gastric bypass (GBP). Nineteen patients had chronic renal failure at the time of GBP, eight had transplantation followed by GBP, and three had GBP and then transplantation. RESULTS: The reduction in excess body mass index (above 25) after GBP at 1, 2, and 3 years was similar to patients without transplantation or chronic renal failure, approximately 70% at 1 year. Comorbid conditions were diminished in each subset of patients, decreasing their risk for potential cardiovascular complications. One patient died 7.9 years after a GBP and 6.1 years after transplantation from cardiovascular disease related to longstanding diabetes that was present before her renal failure. CONCLUSIONS: GBP is a safe and effective means for achieving significant long-term weight loss and relief of comorbid conditions in patients with renal failure on dialysis, in preparation for transplantation, or after transplantation.