نتایج جستجو برای: fanconi bickel syndrome

تعداد نتایج: 624826  

Journal: :Physical chemistry chemical physics : PCCP 2016
Kalishankar Bhattacharyya Ammu Surendran Chandra Chowdhury Ayan Datta

The structures of molecules form the cornerstone of our chemical knowledge. Lowering of symmetry in closed-shell molecules is often attributed to the Pseudo Jahn-Teller (PJT) distortions wherein non-adiabatic coupling (NAC) between the ground state and excited states creates vibrational instability along specific normal modes. Nevertheless, other factors like steric interactions are also well k...

2016
Mustafa Q Albustani Robert F Howard

INTRODUCTION Wissler-Fanconi syndrome is a rare rheumatic syndrome that was first described during the 1940s in Europe. Since then, many papers have been written that cover all aspects of this syndrome, most of which are in French and German language, with only a very few in English (none of them recent). We report here a case that fulfils the criteria for Wissler-Fanconi syndrome. Under the mo...

2014
Eleonora Riccio Antonio Pisani

We present the case of a 9-year-old child with lysinuric protein intolerance and Fanconi syndrome. She was referred to our hospital with a persistent metabolic acidosis and polyuria. Renal investigations revealed all laboratory signs of Fanconi syndrome, with glucosuria, generalized aminoaciduria, phosphaturia and severe hypercalciuria. The diagnosis of Fanconi syndrome was confirmed by a renal...

2016
Mingmin Shi Lei Chen

We report a unique case of Sjögren's syndrome complicated with Fanconi syndrome and Hashimoto's thyroiditis in a 53-year-old Chinese woman, initially found to have proteinuria, fatigue and multiple old costal fractures. Distal tubular dysfunction is the most common renal damage in Sjögren's syndrome, while Fanconi syndrome (which is caused by proximal tubular dysfunction) and Hypothyroidism are...

2014
Alexander J Hamilton Coralie Bingham Timothy J McDonald Paul R Cook Richard C Caswell Michael N Weedon Richard A Oram Beverley M Shields Maggie Shepherd Carol D Inward Julian P Hamilton-Shield Jürgen Kohlhase Sian Ellard Andrew T Hattersley

BACKGROUND Mutation specific effects in monogenic disorders are rare. We describe atypical Fanconi syndrome caused by a specific heterozygous mutation in HNF4A. Heterozygous HNF4A mutations cause a beta cell phenotype of neonatal hyperinsulinism with macrosomia and young onset diabetes. Autosomal dominant idiopathic Fanconi syndrome (a renal proximal tubulopathy) is described but no genetic cau...

2017
Jueying Lin Yufeng Zhuo Dongdong Zhang

BACKGROUND An increasing number of case reports suggest that acquired renal Fanconi syndrome may be associated with prolonged use of adefovir against hepatitis B virus. Renal Fanconi syndrome is an uncommon disease, and its complication with nephrolithiasis is quite rare. Herein, we report a rare coexistence of nephrolithiasis and acquired renal Fanconi syndrome in a chronic hepatitis B-positiv...

2016
Deepak M.W. Balak Jan Nico Bouwes Bavinck Aiko P.J. de Vries Jenny Hartman Hendrik A. Martino Neumann Robert Zietse Hok Bing Thio

BACKGROUND Fumaric acid esters (FAEs), an oral immunomodulating treatment for psoriasis and multiple sclerosis, have been anecdotally associated with proximal renal tubular dysfunction due to a drug-induced Fanconi syndrome. Few data are available on clinical outcomes of FAE-induced Fanconi syndrome. METHODS Descriptive case series with two cases of Fanconi syndrome associated with FAE treatm...

Journal: :Schweizer Archiv fur Tierheilkunde 2014
A Major A Schweighauser S E Hinden T Francey

Acquired Fanconi syndrome is characterized by inappropriate urinary loss of amino acids, bicarbonate, electrolytes, and water. It has recently been described in dogs fed chicken jerky treats from China, a new differential diagnosis to the classical inciting infectious diseases (e.g. leptospirosis, pyelonephritis) and toxins. A dog fed exclusively chicken jerky treats purchased in Switzerland wa...

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید