نتایج جستجو برای: fanconi bickel syndrome

تعداد نتایج: 624826  

Journal: :Türkiye Klinikleri Journal of Case Reports 2023

Fanconi anemia (FA) is a rare autosomal recessive inherited syndrome characterized by chromosomal instability, aplastic and cancer predisposition, accompanied congenital anomalies. In these patients, the probability of tumor development in head neck region higher than normal population. A patient with fanconi was admitted to our clinic due painful lesions oral cavity. brush biopsy taken from re...

2013
Naoko Kinoshita-Katahashi Hirotaka Fukasawa Sayaka Ishigaki Shinsuke Isobe Shiro Imokawa Yoshihide Fujigaki Ryuichi Furuya

BACKGROUND Hyponatremia is often observed in patients with Legionella pneumonia. However, other electrolyte abnormalities are uncommon and the mechanism remains to be clarified. CASE PRESENTATION We experienced two male cases of acquired Fanconi syndrome associated with Legionella pneumonia. The laboratory findings at admission showed hypophosphatemia, hypokalemia, hypouricemia and/or hyponat...

2007
Pankaj Deshpande Uma Ali

The Fanconi Syndrome is a generalized proximal tubule defect leading to urinary wasting of many solutes such as glucose, amino-acids, phosphates and bicarbonates that results in polyuria, growth failure and resistant rickets(l,2). It is an. uncommon tubulopathy and is usually secondary to a systemic disease, metabolic disorder or drug toxicity. Of the 40 inherited tubulopathies seen at our neph...

2016
Shunsuke Goto Hideki Fujii Keiji Kono Kentaro Watanabe Kentaro Nakai Shinichi Nishi

Fibroblast growth factor 23 (FGF23) is regulated by sustained phosphate supplementation and restriction. However, few studies have investigated FGF23 levels in patients with Fanconi syndrome. Therefore, we evaluated intact and C-terminal FGF23 and FGF23-associated parameters in four patients with Fanconi syndrome. Serum intact and C-terminal FGF23 levels were extremely low. Although serum phosp...

2017
N. Cesbron L. Dorso A.‐L. Royer G. Dervilly‐Pinel J. Hervé

A case study of renal tubular dysfunction consistent with idiopathic Fanconi syndrome is reported in an 18-month-old Holstein heifer. The clinical, biochemical, and histopathological features are described. The heifer had clinical signs of growth retardation, wasting, and persistent diarrhea. Biochemical blood analysis identified hypokalemia, hyponatremia, and hypochloremia. Urinalysis identifi...

Journal: :The Yale Journal of Biology and Medicine 1990
W. S. Long M. R. Seashore N. J. Siegel M. J. Bia

Fanconi syndrome is a complex of renal tubular dysfunctions defined by glycosuria without diabetes, aminoaciduria, phosphaturia, and renal tubular acidosis. It is often associated with hypokalemia, hypophosphatemia, and rickets or osteomalacia. Although it is usually found in the setting of other well-established non-renal diseases, Fanconi syndrome may present without identifiable etiology or ...

2017
Akira YABUKI Tomoko IWANAGA Urs GIGER Mariko SAWA Moeko KOHYAMA Osamu YAMATO

Renal Fanconi syndrome has recently been associated with the ingestion of pet jerky treats from China in mostly small breed dogs in North America, Australia and Europe. We report here about two dogs with Fanconi syndrome following pet jerky treats exposure in Japan. A mixed-breed dog and a French bulldog showed weight loss, polyuria and polydipsia. For years, the owners had been feeding large q...

Journal: :Journal of clinical pathology 1967
J F Harrison J D Blainey

Two adult cases of the Fanconi syndrome are described, in each of which there was abnormal urinary excretion of immunoglobulin kappa-chain. The significance of this finding is discussed in relation to the recognized association between multiple myeloma and the Fanconi syndrome.

Journal: :Clinical Journal of the American Society of Nephrology 2008

Journal: :Journal of clinical pathology 1984
R L Sewell M S Dorreen

A case of adult Fanconi syndrome is described in which there was urinary excretion of kappa light chains. After 13 years the patient developed overt myeloma. She also developed an adenocarcinoma of the colon and an adenocarcinoma of the parathyroid gland. These findings are discussed in relation to the known association between adult Fanconi syndrome, renal damage, and myeloma.

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