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1. 乳児や小児の尿細管性アシドーシスの病因および臨床症状etiology and clinical manifestations of renal tubular acidosis in infants and children [show details]
…of the five plasma membrane sodium-hydrogen exchangers. Generalized proximal tubular dysfunction, referred to as Fanconi syndrome, is characterized by phosphaturia, renal glucosuria (glucosuria with a …
2. ファンコニー貧血の臨床症状と診断clinical manifestations and diagnosis of fanconi anemia [show details]
… Fanconi anemia (FA) is an inherited bone marrow failure syndrome characterized by pancytopenia, predisposition to malignancy, and physical abnormalities including short stature, microcephaly, developmental …
3. 遠位（I型）および近位（II型）尿細管性アシドーシスの病因および診断etiology and diagnosis of distal type 1 and proximal type 2 renal tubular acidosis [show details]
…produce a Fanconi syndrome . In children, idiopathic RTA, ifosfamide therapy, and cystinosis are the most common causes of proximal RTA . Although most children present with Fanconi syndrome, some have …
4. 低リン血症の原因causes of hypophosphatemia [show details]
…wasting. The Fanconi syndrome is a generalized impairment in proximal tubular function that causes urinary wasting of phosphate as well as other compounds. In adults, the Fanconi syndrome is most often …
5. ファンコニー貧血のマネージメントと予後management and prognosis of fanconi anemia [show details]
… Fanconi anemia (FA) is an inherited bone marrow failure syndrome characterized by pancytopenia, predisposition to malignancy, and physical abnormalities including short stature, microcephaly, developmental …

English Journal

Targeted RNA-seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes.

Brandão RD, Mensaert K, López-Perolio I, Tserpelis D, Xenakis M, Lattimore V, Walker LC, Kvist A, Vega A, Gutiérrez-Enríquez S, Díez O, , de la Hoya M, Spurdle AB, De Meyer T, Blok MJ.
International journal of cancer. 2019 Jul;145(2)401-414.
A subset of genetic variants found through screening of patients with hereditary breast and ovarian cancer syndrome (HBOC) and Lynch syndrome impact RNA splicing. Through target enrichment of the transcriptome, it is possible to perform deep-sequencing and to identify the different and even rare mRN
PMID 30623411

A Case of Drug-Induced Proximal Tubular Dysfunction.

Hall AM, Unwin RJ.
Clinical journal of the American Society of Nephrology : CJASN. 2019 Jun;().
PMID 31182554

Management of bone disease in cystinosis: Statement from an international conference.

Hohenfellner K, Rauch F, Ariceta G, Awan A, Bacchetta J, Bergmann C, Pozza SB, Cassidy N, Deschenes G, Elenberg E, Gahl WA, Greil O, Harms E, Herzig N, Hoppe B, Koeppl C, Lewis MA, Levtchenko E, Nesterova G, Santos F, Schlingmann KP, Servais A, Soliman NA, Steidle G, Sweeney C, Treikauskas U, Topaloglu R, Tsygin A, Veys K, V Vigier R, Zustin J, Haffner D.
Journal of inherited metabolic disease. 2019 Jun;().
Cystinosis is an autosomal recessive storage disease due to impaired transport of cystine out of lysosomes. Since the accumulation of intracellular cystine affects all organs and tissues, the management of cystinosis requires a specialized multi-disciplinary team consisting of pediatricians, nephrol
PMID 31177550

Japanese Journal

Mitochondrial encephalomyopathies preceded by de Toni-Debre-Fanconi syndrome or focal segmental glomerulosclerosis.

MOCHIZUKI H.
Clin Nephrol 46, 347-352, 1996
NAID 10006818721

Deletion of the mitochondrial DNA in a case of de Toni-Debre-Fanconi syndrome and Pearson syndrome.

NIAUDET P.
Pediatr Nephrol 8, 164-168, 1994
NAID 10007000614

小児慢性腎疾患における血清および尿中ミオグロビンについて

黒沼忠由樹,藤田誠
医療 42(9), 795-798, 1988
… 患児の血清Mbでは, 腎機能正常のネフローゼ症候群, 膜性増殖性糸球体腎炎では全例ほぼ正常範囲で, 腎機能低下の慢性腎炎の2例では有意に上昇していた.IgA腎症, その他の遷延性腎炎および紫斑病性腎炎では血清Mbは正常範囲であり, Fanconi症候群では腎機能軽度悪化の1例で高値であつた.2)血清Mbはβ<sub>2</sub>M, BUNおよびGrとは有意に正の相関があつた. …
NAID 130004314161