scholarly journals Renal Fanconi Syndrome and Hypophosphatemic Rickets in the Absence of Xenotropic and Polytropic Retroviral Receptor in the Nephron

2016 ◽  
Vol 28 (4) ◽  
pp. 1073-1078 ◽  
Author(s):  
Camille Ansermet ◽  
Matthias B. Moor ◽  
Gabriel Centeno ◽  
Muriel Auberson ◽  
Dorothy Zhang Hu ◽  
...  
Keyword(s):  
Fanconi Syndrome ◽  
Hypophosphatemic Rickets ◽  
Renal Fanconi Syndrome ◽  
Retroviral Receptor

Saethre-Chotzen Syndrome Presenting with Incomplete Renal Fanconi Syndrome

Nephron ◽  
2002 ◽  
Vol 92 (2) ◽  
pp. 463-465 ◽  
Author(s):  
Cagatay Oktenli ◽  
Mutlu Saglam ◽  
Emre Zafer ◽  
Davut Gül
Keyword(s):  
Fanconi Syndrome ◽  
Renal Fanconi Syndrome

Combined proteomic and metabonomic studies in three genetic forms of the renal Fanconi syndrome

2007 ◽  
Vol 293 (2) ◽  
pp. F456-F467 ◽  
Author(s):  
Annalisa Vilasi ◽  
Pedro R. Cutillas ◽  
Anthony D. Maher ◽  
Severine F. M. Zirah ◽  
Giovambattista Capasso ◽  
...  
Keyword(s):  
Molecular Weight ◽  
Fanconi Syndrome ◽  
Low Molecular Weight ◽  
Renal Fanconi Syndrome ◽  
Dent’S Disease ◽  
H Nmr ◽  
Low Molecular Weight Proteinuria ◽  
Dent's Disease ◽  
Underlying Mechanisms ◽  
Normal Urine

The renal Fanconi syndrome is a defect of proximal tubular function causing aminoaciduria and low-molecular-weight proteinuria. Dent's disease and Lowe syndrome are defined X-linked forms of Fanconi syndrome; there is also an autosomal dominant idiopathic form (ADIF), phenotypically similar to Dent's disease though its gene defect is still unknown. To assess whether their respective gene products are ultimately involved in a common reabsorptive pathway for proteins and low-molecular-mass endogenous metabolites, we compared renal Fanconi urinary proteomes and metabonomes with normal (control) urine using mass spectrometry and1H-NMR spectroscopy, respectively. Urine from patients with low-molecular-weight proteinuria secondary to ifosfamide treatment (tubular proteinuria; TP) was also analyzed for comparison. All four of the disorders studied had characteristic proteomic and metabonomic profiles. Uromodulin was the most abundant protein in normal urine, whereas Fanconi urine was dominated by albumin.1H-NMR spectroscopic data showed differences in the metabolic profiles of Fanconi urine vs. normal urine, due mainly to aminoaciduria. There were differences in the urinary metabolite and protein compositions between the three genetic forms of Fanconi syndrome: cluster analysis grouped the Lowe and Dent's urinary proteomes and metabonomes together, whereas ADIF and TP clustered together separately. Our findings demonstrate a distinctive “polypeptide and metabolite fingerprint” that can characterize the renal Fanconi syndrome; they also suggest that more subtle and cause-specific differences may exist between the different forms of Fanconi syndrome that might provide novel insights into the underlying mechanisms and cellular pathways affected.

Hypophosphatemia in a Malnourished Child: When Renal Fanconi Syndrome Does Not Stand for Refeeding Syndrome

2018 ◽  
Vol 43 (1) ◽  
pp. 166-169 ◽  
Author(s):  
Joseph Runde ◽  
Edgardo Rivera‐Rivera ◽  
Cecelia Pompeii‐Wolfe ◽  
Christopher Clardy ◽  
Timothy Sentongo
Keyword(s):  
Fanconi Syndrome ◽  
Malnourished Child ◽  
Refeeding Syndrome ◽  
Renal Fanconi Syndrome

Approach to the patient with renal Fanconi syndrome, glycosuria, or aminoaciduria

2018 ◽  
Author(s):  
Detlef Bockenhauer ◽  
Robert Kleta
Keyword(s):  
Fanconi Syndrome ◽  
Tubular Dysfunction ◽  
Renal Fanconi Syndrome ◽  
Renal Glycosuria ◽  
Proximal Tubular Dysfunction ◽  
Wide Range ◽  
Proximal Tubular ◽  
Proximal Tubular Function ◽  
Low Molecular Weight Proteins ◽  
Filtration Capacity

Up to 80% of filtered salt and water is returned back into the circulation in the proximal tubule. Several solutes, such as phosphate, glucose, low-molecular weight proteins, and amino acids are exclusively reabsorbed in this segment, so their appearance in urine is a sign of proximal tubular dysfunction. An entire orchestra of specialized apical and basolateral transporters, as well as paracellular molecules, mediate this reabsorption. Defects in proximal tubular function can be isolated (e.g. isolated renal glycosuria, aminoacidurias, or hypophosphataemic rickets) or generalized. In the latter case it is called the Fanconi–Debre–de Toni syndrome, based on the initial clinical descriptions. However, in clinical practice it is usually referred to as just the ‘renal Fanconi syndrome’. Severity of proximal tubular dysfunction can vary, and may coexist with some degree of loss of glomerular filtration capacity. Causes include a wide range of insults to proximal tubular cells, including a number of genetic conditions, drugs and poisons.

Primary Sjӧgren's syndrome with renal Fanconi syndrome: Good responses to treatment with glucocorticoids

2020 ◽  
Vol 50 (6) ◽  
pp. 1326-1332
Author(s):  
Xiaoxiao Shi ◽  
Zhixin Chen ◽  
Jing Wang ◽  
Yubing Wen ◽  
Linfeng Zou ◽  
...  
Keyword(s):  
Fanconi Syndrome ◽  
Renal Fanconi Syndrome ◽  
Primary Sjӧgren’S Syndrome

scholarly journals A hybrid treatment modality of a subtrochanteric femoral fracture in a patient with osteoporosis due to a renal Fanconi syndrome: a case report

2020 ◽  
Vol 2020 (8) ◽  
Author(s):  
Stefan F Lange ◽  
Tim K J Schrooten ◽  
Ralph J de Wit ◽  
Reinier de Groot
Keyword(s):  
Femoral Fracture ◽  
Fanconi Syndrome ◽  
Treatment Method ◽  
Contralateral Side ◽  
Fracture Probability ◽  
Renal Fanconi Syndrome ◽  
Screw Osteosynthesis ◽  
Hybrid Treatment ◽  
Polymer Implant ◽  
Subtrochanteric Femoral Fracture

Abstract A 24-year-old male with an idiopathic renal Fanconi syndrome presented to our ER after a low-energetic fall. Conventional imaging revealed a right subtrochanteric femoral fracture, severely decreased bone quality and cannulated collum femoris screws on the contralateral side. Regular plate-screw osteosynthesis or cephalomedullary implantation was deemed insufficient, due to a high iatrogenic and periprosthetic fracture probability. The decision was made to perform a plate-screw osteosynthesis combined with an intramedullary polymer bone enhancement (IlluminOss), to minimize this risk. No complications occurred perioperatively. The patient was able to walk independently two months postoperatively. This case shows that use of polymer implant as an enhancement of osteosynthesis in repair of fractures in the Fanconi syndrome is a safe and possible useful treatment method.

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