Refractory genetic hypokalemia in adulthood / Hipopotasemia genética refractaria en la edad adulta

Hypokalemia, despite its potential seriousness, is frequently encountered in clinical practice; with the majority of cases occurring in adulthoodbeing rationalized by examining the triad losses: diuretics, vomiting and diarrhea, as inherited causes of hypokalemia with later onset are uncommon.Below we report a case of chronic and recurrent mild hypokalemia, in an adult patient with idiopathic congenital deafness. Early clinical and analytical findings pointed to a hereditary syndrome with augmented potassium renal excretion. Suspicion of a likely molecular basis motivated theanalysis of the barttin’s gene, revealing a G47R mutation in heterozygosity as well as a second mutation within an usually unaltered area. G47Rmutation when in homozygosity is associated with an attenuated BSND (Bartter syndrome accompanied by sensorineural deafness) phenotype,questioning the clinical significance of the second mutation discovered. (AU)

Proteus Syndrome: A Rare Case in An Adult Ward.

Proteus syndrome is an extremely rare disorder that manifests as an asymmetric, disproportionate overgrowth of any connective tissue, such as bone, fat or epidermal nevi, in a mosaic or patchy pattern. It has an estimated prevalence of less than 1/1,000,000 live births. The diagnosis can be difficult because the phenotypes of the patients are variable. Many individuals develop cutaneous capillary malformation and prominent varicosities (large and complex vascular malformations). Thus, Proteus syndrome patients are at risk of developing deep vein thrombosis and pulmonary embolism. The authors present the case of a patient with Proteus syndrome who was admitted because of pulmonary thromboembolism and presented hypertrophy of the left arm and left hemithorax. LEARNING POINTS: Proteus syndrome is an extremely rare disorder that manifests as an asymmetric, disproportionate overgrowth of any connective tissue.The diagnosis can be difficult because the phenotypes are variable.It is important to keep in mind the importance of anticoagulation because patients are at risk of developing deep vein thrombosis and pulmonary embolism.

Takayasu arteritis: showed by a hypertensive crisis

Takayasu Arteritis (TA) is a primary granulomatous large vessel vasculitis, affecting predominantly young women1. It mainly affects the aorta and its major branches. TA and the required immunosuppressive therapy cause considerable morbidity and mortality2. Early in the disease course, symptoms can be non-specific, leading to a difficult diagnosis3. Consequences of vascular stenosis, occlusions, and, less commonly, vascular dilation, account for the typical clinical presentation; the latter can sometimes lead to aneurysmal rupture or dissection. Though the importance of a comprehensive history and a thorough physical examination cannot be over-emphasized, clinical assessment is frequently inaccurate when evaluating disease activity, which may sometimes progress silently. Also the diagnostic modalities currently used are unsatisfactory. X-Ray angiography, the "gold standard" for TA diagnosis, can image luminal defects but does not detect changes of the vessel wall4. The diagnosis of TA can be confirmed with histopathological examination; however, tissue from blood vessels is obtained only in the minority of patients requiring a surgical intervention. There are currently no specific biomarkers for diagnosing TA. Identifying disease activity in TA is challenging3.Glucocorticosteroids are anchor drugs for this disease, like other vasculitis. Most cases in Japan respond with 0.3-0.5 mg/kg/day prednisolone, but we frequently found that some patients revealed flare-ups during tapering of glucocorticosteroids. Since TAK mainly affects young women, side-effects of glucocorticosteroids, especially moon face, severely damage their quality of life. Immunosuppressive agents, including methotrexate, cyclosporine, cy-clophosphamide, mycophenolate mofetil and TACROLIMUS have been used for patients with TAK. Biological agents targeting tumor necrosis factor (TNF) have also been used for patients with TAK. Since IL-6 is highly expressed within inflamed arteries and serum levels correlate with disease activity, block-ing IL-6 showed effectiveness in TA. Tocilizumab is a humanized monoclonal antibody against the IL-6 receptor, and the first report of successful use of tocilizumab in a patient with refractory TA was published in 2008. Later, nine additional cases of TA treated with tocilizumab 8 mg/kg every 4 weeks were reported. In the majority of the cases, disease activity improved and CS doses were discontinued or tapered. Abatacept is another promising biologic agent inhibiting the co-stimulation of T cells, and is currently being investigated in the first randomized, placebo-controlled trial of LVV patients including TA7.This article aims the description of a clinical case of a serious appearance form of an uncommon disease, Takayasu's arteritis

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