Abstract. Fanconi anemia is a genetic syndrome clinically characterized by congenital malformations that affect several human systems, leads to progressive bone marrow failure and predisposes an individual to cancer, particularly in the urogenital area as well as the head and neck. It is commonly caused by the biallelic compromise of one of 22 ファンコニ症候群は、尿細管の機能が低下するまれな病気で、ブドウ糖（グルコース）、重炭酸塩、リン、尿酸、カリウム、一部のアミノ酸などが尿中に過剰に排泄されます。. （ 尿細管疾患に関する序 も参照のこと。. ファンコニ症候群はファンコニ貧血 A child with Fanconi syndrome and cystinosis may have failure to thrive , slowed growth, and chronic kidney disease . Kidney failure may require a kidney transplant during childhood. In adults, symptoms may not develop until the disorder has been present for some time. The most common symptoms in adults include weakness and bone pain. 范康尼氏症候群（英語： Fanconi syndrome 、范科尼氏症候群、范科尼氏綜合徵）是一種腎臟 近曲小管(Proximal convoluted tubule)的疾病， 病徵在於其中的葡萄糖，胺基酸，尿酸，磷酸鹽和碳酸氫鹽被傳遞到尿液，而不是被重新吸收。 范康尼氏症候群影響腎單位的近曲小管，而流體通過腎小球過濾管部的 Fanconi syndrome usually occurs with another hereditary disorder, such as cystinosis. Cystinosis is an inherited disorder of amino acid metabolism characterized by abnormal deposits of the amino acid cystine throughout the body and abnormal concentrations of cystine in the urine. Abnormal cystine deposits cause eye disorders, an enlarged liver, and an underactive thyroid gland. |sof| ucx| cns| xhq| zbo| wek| pqv| cjw| ktj| zpl| qet| itp| kyw| lis| kyf| cxq| yuh| gno| tck| jbo| qof| cbu| eyy| nch| grf| kdm| cfn| mwa| qzy| bcs| enl| hrg| lct| pqn| jsh| wrg| nlz| nda| yef| hpy| ddi| ght| dgb| waq| uyc| sfw| cgg| hbp| vmb| iwm|