نتایج جستجو برای: fanconi bickel syndrome

تعداد نتایج: 624826  

2016
Eun Jeong Lee Su Yeon Lee So Young Park Yonjin Kim Jae Shin Choi Mi Jeoung Kim Ji Hyeon Park Jung Eun Lee Ghee Young Kwon Yoon-Goo Kim

Crystalline nephropathy is a rare yet well-known condition associated with multiple myeloma and other light chain-secreting disorders. Paraproteins that are resistant to proteolysis crystallize within proximal tubular cells and cause light-chain proximal tubulopathy, which presents clinically as Fanconi syndrome. Podocytes are rarely affected, and the crystalline inclusions within podocytes are...

2015
Xiao-Bing Wang Xiao-Chun Zhu Xiao-Ying Huang Wen-Jing Ye Liang-Xing Wang

Fanconi syndrome results from a generalized abnormality of the proximal tubules of the kidney and owing to phosphate depletion can cause hypophosphatemic osteomalacia. Adefovir dipivoxyl (ADV) effectively suppresses hepatitis B virus replication but exhibits nephrotoxicity when administered at a low dosage. We report two cases of Fanconi syndrome induced by ADV at 10 mg/day to call for regular ...

Journal: :Antiviral therapy 2013
David M Gracey Paul Snelling Paul McKenzie Simone I Strasser

Tenofovir disoproxil fumarate (TDF) is increasingly used in patients with chronic hepatitis B (CHB) infection. Although associated with renal toxicity in HIV-infected patients, renal dysfunction has been reported rarely in the monoinfected CHB population. To date, TDF-associated Fanconi syndrome has not been reported. Here, we present two cases of TDF-associated Fanconi syndrome with rapid reso...

Journal: :Journal of medical genetics 2006
S T Holden J J Cox I Kesterton N S Thomas C Carr C G Woods

BACKGROUND The VACTERL with hydrocephalus (VACTERL-H) phenotype is recognised to be a severe manifestation of autosomal recessive Fanconi anaemia. Several families have been described in which the VACTERL-H phenotype segregates as an X linked syndrome. The mutations which cause X linked VACTERL-H syndrome are not known. OBJECTIVE To determine if mutations in FANCB, which are known to cause Fa...

Journal: :Proceedings of the Royal Society of Medicine 1969

Journal: :The American Journal of the Medical Sciences 2017

Journal: :Postgraduate medical journal 1966
D P Mullan

DAWSON, D. W., and JOHNSON, J. (1958): Anticonvulsants and Megaloblastic Anaemia, Brit. med. J., i, 397. GIRDWOOD, R. H., and LENMAN, J. A. R. (1956): Anaemia occurring During Primidone Therapy, Brit. med. J., i, 146. GOUGH, K., READ, A., MCCARTHY, C., and WATERS, A. (1963): Megaloblastic Anaemia due to Nutritional Deficiency of Folic Acid, Quart. J. Med. N.S., 32, 243. HAWKINS, C. F., and MEYN...

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