Adult Idiopathic Renal Fanconi Syndrome: A Case Report

Renal Fanconi syndrome (RFS) is caused by generalized proximal tubular dysfunction and can be divided into hereditary and acquired form. Adult-onset RFS is usually associated with drug toxicity or systemic disorders, and modern molecular genetics may explain the etiology of previous idiopathic cases of RFS. Here, we report the case of a 52-year-old woman with RFS whose etiology could not be identified. She presented with features of phosphaturia, renal glucosuria, aminoaciduria, tubular proteinuria, and proximal renal tubular acidosis. Her family history was unremarkable, and previous medications were nonspecific. Her bone mineral density was compatible with osteoporosis, serum intact parathyroid hormone level was mildly elevated, and 25(OH) vitamin D level was insufficient. Her blood urea nitrogen and serum creatinine levels were 8.4 and 1.19 mg/dL, respectively (estimated glomerular filtration rate, 53 mL/min/1.73 m²). Percutaneous renal biopsy was performed but revealed no specific renal pathology, including mitochondrial morphology. No mutation was detected in EHHADH gene. We propose the possibility of involvement of other genes or molecules in this case of adult RFS.

Excreção renal de fósforo em cães nefropatas sob estimulação dopaminérgica / Renal excretion of phosphorus in nephropathy dogs under dopaminergic stimulation

A dopamina possui um amplo espectro de ação no sistema urinário. Aumento da taxa de filtração glomerular, do fluxo sanguíneo renal e da excreção fracionada de sódio e fósforo é um efeito renal esperado em indivíduos normais. Este estudo foi realizado com o propósito de testar a hipótese de que a dopamina é capaz de aumentar a excreção fracionada de fósforo em cães nefropatas. Cinco cães sadios e quatro cães nefropatas, com doença predominantemente túbulo-intersticial, foram submetidos à infusão de solução controle (NaCl 0,9 por cento) e solução de dopamina em duas taxas de infusão diferentes (1µg kg-1 min-1 e 3µg kg-1 min-1), sendo realizadas avaliações antes, durante e 30 minutos após a infusão. Os cães sadios apresentaram aumento significativo (P≤0,05) na excreção fracionada e excreção renal de fósforo durante a infusão de 3µg kg-1 min-1, porém a concentração sérica permaneceu sem alterações durante o tratamento. Já os cães nefropatas apresentaram aumento significativo (P≤0,05) na excreção fracionada e excreção renal de fósforo, tanto na dose de 1µg kg-1 min-1, como na de 3µg kg-1 min-1. Além disso, após a infusão de 1µg kg-1min-1, a concentração sérica de fósforo apresentou redução significativa. Os resultados são indicativos de que a dopamina nas doses de 1µg kg-1 min-1 e 3µg kg-1 min-1 podem ser incluídas na terapia de cães nefropatas para melhorar a homeostase de fosfato.

The dopamine has a wide spectrum of action on the urinary system. Increases in glomerular filtration rate, renal blood flow, sodium and phosphate fractioned excretion are renal effects expected in healthy people. Thus, this study was conducted in order to test the hypothesis that the dopamine is efficient to increase the fractioned excretion of phosphorus in nephropathic dogs. Five healthy dogs and four dogs nephropathic, predominantly with tubule-interstitial illness were submitted to a solution control infusion (NaCl 0.9 percent) and to a dopamine solution in two different rates of infusion (1µg kg-1min-1 and 3µg kg-1min-1) and were assessed before, during, and 30 minutes after the infusion. The healthy dogs presented a significant increase (P≤0.05) in the fractioned excretion and renal excretion of phosphate during the infusion of 3µg kg-1min-1, however, the seric concentration remained without alterations during the treatment. The nephropathic dogs presented a significant increase (P≤0,05) in the fractioned excretion and renal excretion of phosphate, in the 1µg kg-1 min-1, and in the 3µg kg-1 min-1 doses. Moreover, after the infusion of 1µg kg-1 min-1, the seric concentration of phosphate presented a significant reduction. The results indicate that the dopamine in the doses of 1µg kg-1 min-1 and 3µg kg-1 min-1 can be included in the intensive therapy of nephropathic dogs to improve the phosphate homeostasis.

A Case of Osteosarcoma induced Oncogenic Osteomalacia Detected by MRI / 대한내분비학회지

Oncogenic osteomalacia is a syndrome characterized by phosphaturia, hypophosphatemia, decreased 1,25-dihydroxyvitamin D level and specific signs and symptoms of osteomalacia. It is associated with the presence of neoplasm originated from mesenchyme. Until now, less than 100 cases of oncogenic osteomalacia have been reported. The pathophysiology of oncogenic osteomalacia has not been fully understood, but it has been suggested that a certain substance released by tumor may inhibit not only la-hydroxylase activity and reduce 1,25-dihydroxyvitamin D level in part, but directly inhibit reabsorption of phosphate. And then, reduced phosphaturia, hypophosphatemia and eventually osteomalacia develop. We report a case of osteosarcoma induced oncogenic osteomalacia detected by MRI in 59 year old woman.

HOW TO EXPLORE THE HIGH EFFECTIVE PROVED RECIPE OF CHINESE MEDICINE IN INTEGRATING TRADITIONAL AND WESTERN MEDICINE / 西安交通大学学报(医学版)

with the aim of how to explore the high effective proved recipes of chinese medicine, our research laboratory tried to propose that one may find out the corresponding diagnosis in term of western medicine as precisely as possible on the basis of the leading symptoms or leading signs which could be afforded by the case report on ideal cure with traditional medicine, and then correlate this diagnosis regularly with the high effective treatment. Therefore, not only the rich data about such diagnosis may be used to extend knowledge of the disease under study, but also a high effective recipe specific to the recorded disease can be obtained at first, then tested in practice. This paper describes two practical examples to illustrate the analytic Processes. One was to explore both acupuncture method and medical prescription for curing the rheumatoid arthritis complicated by subcutaneous nodules, and the other to identify the yam medical drink for treating the phosphaturia coming from the constitutional anomaly.