Succinylacetone Effects on Renal Tubular Phosphate Metabolism: A Model for Experimental Renal Fanconi Syndrome

1991 ◽  
Vol 196 (4) ◽  
pp. 428-431 ◽  
Author(s):  
K. S. Roth ◽  
B. E. Carter ◽  
E. S. Higgins
Keyword(s):  
Fanconi Syndrome ◽  
Phosphate Metabolism ◽  
Renal Fanconi Syndrome ◽  
Renal Tubular

scholarly journals Transient renal Fanconi syndrome in a Chihuahua exposed to Chinese chicken jerky treats

2015 ◽  
Vol 43 (03) ◽  
pp. 188-192 ◽  
Author(s):  
E. Furman ◽  
J. Leidinger ◽  
D. Brandstetter ◽  
C. Hochleithner ◽  
A. C. Sewell ◽  
...  
Keyword(s):  
North America ◽  
Fanconi Syndrome ◽  
Clinical Signs ◽  
Metabolic Abnormalities ◽  
Renal Fanconi Syndrome ◽  
First Report ◽  
History Of ◽  
Renal Tubular

SummaryTransient Fanconi syndrome without azotemia was diagnosed in a dog and was associated with ingestion of Chinese chicken jerky treats. Fanconi syndrome is a proximal renal tubular defect and a diagnosis was made based upon severe glucosuria with normoglycemia, and severe generalized aminoaciduria. The clinical signs of polyuria and polydipsia as well as the massive urinary metabolic abnormalities resolved after jerky treat withdrawal. While frequently seen in North America and Australia, this is the first report of jerky treat induced Fanconi syndrome in continental Europe. Clinicians should be aware of this potential intoxication and be vigilant for a history of jerky treat consumption in a dog with glucosuria.

scholarly journals A Complicated Pregnancy in an Adult with HNF4A p.R63W-Associated Fanconi Syndrome

2019 ◽  
Vol 2019 ◽  
pp. 1-5 ◽  
Author(s):  
Oluwaseun Anyiam ◽  
Elizabeth Wallin ◽  
Felicity Kaplan ◽  
Christopher Lawrence
Keyword(s):  
Fanconi Syndrome ◽  
Multidisciplinary Approach ◽  
Elective Caesarean Section ◽  
Rare Condition ◽  
Renal Tubules ◽  
Renal Fanconi Syndrome ◽  
Healthy Baby ◽  
Proximal Renal Tubular Acidosis ◽  
Renal Tubular ◽  
Complicated Pregnancy

Renal Fanconi syndrome (RFS) is characterised by generalised dysfunction of the proximal renal tubules, resulting in excessive urinary loss of solutes, most notably bicarbonate, and type II (proximal) renal tubular acidosis. It is a rare condition, and literature around its management through pregnancy is limited. We present the management of a 37-year-old woman with RFS secondary to the HNF4A p.R63W mutation, through her third pregnancy. She presented at 28 + 5 weeks with dehydration, low serum bicarbonate, and profound metabolic acidosis. Daily infusions of sodium bicarbonate were necessary, and the requirements increased throughout the pregnancy. She also demonstrated both fasting hypoglycaemia and episodes of postprandial hyperglycaemia which required complex management. Due to concerns around fetal health, an elective caesarean section was performed at 34 weeks, delivering a healthy baby girl. This case highlights the potential complexity of pregnancy in patients with RFS and the need for a multidisciplinary approach to its management.

scholarly journals Early post-transplantation hypophosphatemia is associated with elevated FGF-23 levels

2011 ◽  
Vol 164 (5) ◽  
pp. 839-847 ◽  
Author(s):  
Andrea Trombetti ◽  
Laura Richert ◽  
Karine Hadaya ◽  
Jean-Daniel Graf ◽  
François R Herrmann ◽  
...  
Keyword(s):  
Renal Transplantation ◽  
Tubular Reabsorption ◽  
Phosphate Metabolism ◽  
Multivariate Models ◽  
Intact Pth ◽  
Post Transplantation ◽  
Estimated Gfr ◽  
Renal Tubular Reabsorption ◽  
Renal Tubular ◽  
Fgf 23

BackgroundWe examined the hypothesis that high FGF-23 levels early after transplantation contribute to the onset of hypophosphatemia, independently of parathyroid hormone (PTH) and other factors regulating phosphate metabolism.MethodsWe measured serum phosphate levels (sPi), renal tubular reabsorption of Pi (TmPi/GFR), estimated GFR (eGFR), intact PTH (iPTH), calcitriol, intact (int) and C-terminal (Cter) FGF-23, dietary Pi intake and cumulative doses of glucocorticoids in 69 patients 12 days (95% confidence interval, 10–13) after renal transplantation.ResultsHypophosphatemia was observed in 43 (62%) of the patients 12 days after transplantation. Compared with non-hypophosphatemic subjects, their post-transplantation levels of intact and CterFGF-23 were higher (195 (108–288) vs 48 (40–64) ng/l, P<0.002 for intFGF-23; 205 (116–384) vs 81 (55–124) U/ml, P<0.002, for CterFGF-23). In all subjects, Cter and intFGF-23 correlated inversely with sPi (r=−0.35, P<0.003; −0.35, P<0.003, respectively), and TmPi/GFR (r=−0.50, P<0.001; −0.54, P<0.001, respectively). In multivariate models, sPi and TmPi/GFR were independently associated with FGF-23, iPTH and eGFR. Pre-transplant iPTH levels were significantly higher in patients developing hypophosphatemia after renal transplantation. Pre-transplant levels of FGF-23 were not associated with sPi at the time of transplantation.ConclusionIn addition to PTH, elevated FGF-23 may contribute to hypophosphatemia during the early post-renal transplant period.

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.

scholarly journals Acute Lymphoblastic Leukemia Presenting as Fanconi Syndrome

2018 ◽  
Vol 11 (1) ◽  
pp. 63-67
Author(s):  
Tatsunori Yoshida ◽  
Hiroshi Tsujimoto ◽  
Takayuki Ichikawa ◽  
Shinji Kounami ◽  
Hiroyuki Suzuki
Keyword(s):  
Acute Lymphoblastic Leukemia ◽  
Renal Tubular Acidosis ◽  
Fanconi Syndrome ◽  
Blood Smear ◽  
Lymphoblastic Leukemia ◽  
Peripheral Blood Smear ◽  
Leukemic Cells ◽  
Laboratory Examinations ◽  
Renal Tubular ◽  
Electrolyte Abnormalities

Acute lymphoblastic leukemia (ALL) presenting as Fanconi syndrome (FS) is extremely rare. Here, we report a case of ALL presenting as bilateral nephromegaly following FS. A 2-year-old girl was unexpectedly diagnosed with bilateral nephromegaly. After 2 weeks, she developed general fatigue, thirst, and polyuria. Laboratory examinations revealed renal tubular acidosis, hypokalemia, hypophosphatemia, and aminoaciduria, and FS was diagnosed. Replacement of bicarbonate and potassium did not improve her condition. Two weeks after the onset of FS, leukemic cells appeared on a peripheral blood smear, and the patient was diagnosed with precursor B-cell ALL presenting as nephromegaly and FS. Chemotherapy brought about a prompt resolution of acidosis and electrolyte abnormalities, without renal dysfunction. The patient remains well 4 years after the onset of the disease. Although extremely rare, FS should be recognized as one of the emerging renal complications of ALL.

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