Long-term study of family with Fanconi syndrome without cystinosis (Detoni-Debré-Fanconi syndrome)

Hunt, David D.; Stearns, Genevieve; McKinley, John B.; Froning, Edward; Hicks, Patricia J.; Bonfiglio, Michael

doi:10.1016/0002-9343(66)90114-8

Cited by 29 publications

(8 citation statements)

References 40 publications

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“…Dear Sir, Adult Fanconi syndrome is a metabolic disorder exhibiting hypophosphatcmic os teomalacia renal glycosuria, generalized aminoaciduria and usually metabolic acido sis with normal anion gap due to the disorder of proximal tubulus [1], In patients with Fanconi syndrome, most cases are sporadic and the prognosis is better without cystinosis [2]. To our knowledge, about 40 cases of idiopathic Fanconi syndrome to this day have been reported excluding those in which cystinosis and other acquired causes are sus pected [2,3], Familial cases to this day are extremely rare and in some of these cases, the renal disease may progress to end stage in 10-20 years [2.3].…”

Section: A Case Study Of Adult-onset Hypophosphatémie Osteomalacia Wimentioning

confidence: 99%

“…To our knowledge, about 40 cases of idiopathic Fanconi syndrome to this day have been reported excluding those in which cystinosis and other acquired causes are sus pected [2,3], Familial cases to this day are extremely rare and in some of these cases, the renal disease may progress to end stage in 10-20 years [2.3]. Most of the cases, though, when adequately treated, remain free of symptoms and show no progressive deterio ration [3].…”

Section: A Case Study Of Adult-onset Hypophosphatémie Osteomalacia Wimentioning

confidence: 99%

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A Case Study of Adult-Onset Hypophosphatemic Osteomalacia with Idiopathic Fanconi Syndrome

Dalmak¹,

Erek²,

Serdengeçtı³

et al. 1996

Nephron

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Section: A Case Study Of Adult-onset Hypophosphatémie Osteomalacia Wimentioning

confidence: 99%

Section: A Case Study Of Adult-onset Hypophosphatémie Osteomalacia Wimentioning

confidence: 99%

A Case Study of Adult-Onset Hypophosphatemic Osteomalacia with Idiopathic Fanconi Syndrome

Dalmak¹,

Erek²,

Serdengeçtı³

et al. 1996

Nephron

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“…An impressive number of childhood FS have been related to cystinosis [5], Wilson disease [6], lead poisoning [7], various systemic disorders, and drug use [8], apparently on an acquired basis. Idiopathic or primary FS manifests itself in the absence of a known underlying cause or systemic disease [9], and may be hereditary in some instances [9,10]. Growth retardation has been reported to be a common feature in childhood FS [9,10], although little data on longitudinal growth have been analyzed [11].…”

Section: Introductionmentioning

confidence: 99%

“…Idiopathic or primary FS manifests itself in the absence of a known underlying cause or systemic disease [9], and may be hereditary in some instances [9,10]. Growth retardation has been reported to be a common feature in childhood FS [9,10], although little data on longitudinal growth have been analyzed [11].…”

Section: Introductionmentioning

confidence: 99%

Comparison of growth in primary Fanconi syndrome and proximal renal tubular acidosis

2005

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To compare the difference between primary proximal renal tubular acidosis (PRTA) and Fanconi syndrome (FS), and to find out possible risk factors for growth retardation, we studied the long-term growth, clinical, laboratory, and radiological findings associated with the treatment of six children with primary FS and 15 children with PRTA. The ages of the children with FS were much older than those with PRTA at initial diagnosis (7.03+/-3.82 vs. 1.63+/-1.56 years). The height standard deviation score (SDS) at the start of treatment was significantly lower in FS than in PRTA. Catch-up growth was noted in PRTA at the end of follow-up (initial height SDS -2.13+/-1.10 vs. last height SDS -1.33+/-1.43, P=0.023 by paired t-test), whereas apparent linear growth impairment was found in FS in terms of overall growth velocity index (82.70+/-8.37%) and height SDS (initial -3.25+/-0.95 vs. last -3.15+/-0.31, P=0.791). There was also a higher rate of rickets occurrence in FS (3/6 vs. 0/15 in PRTA). Hypophosphatemia during the follow-up period was more frequent for FS than PRTA (69.2+/-26.1% vs. 7.0+/-25.8%, P<0.001), whereas metabolic acidosis (blood HCO(3)<20 mmol/l) was less efficiently corrected in PRTA (49.1+/-20.5% vs. 25.2+/-21.6% in FS, P=0.028). Moreover, the height Delta SDS correlated well with the mean serum P level during the treatment period in these patients (R=0.528, P=0.014 for all children; R=0.917, P=0.01 for FS patients). Our data suggest that metabolic acidosis may not be the sole factor causing growth impairment in FS. Correction of metabolic acidosis may indeed improve growth in PRTA but not in FS. This study indicates that factors other than metabolic acidosis, such as phosphate depletion and delayed diagnosis/treatment, should be considered to be important causes of growth retardation in FS.

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“…They considered this an example of an adultonset idiopathic familial Fanconi syndrome. A number of similar families have since been described (Linder et al, 1949;Ben Ishay et al, 1961 ;Hunt et al,, 1966;Smith el al., 1976).…”

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confidence: 96%

The adult presenting idiopathic fanconi syndrome

Brenton

Isenberg

Cusworth

et al. 1981

J of Inher Metab Disea

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The adult presenting Fanconi syndrome is a rare familial disorder. A 30-year follow-up of one of the original families in the literature is reported here. Two important points have emerged. Firstly, the inheritance in this family is dominant, not recessive as originally suggested, and there remains no good example in the literature of a recessive inheritance of this disorder. Second, in this family lactic aciduria and tubular proteinuria are probably the earliest manifestations of the disorder in childhood, with glycosuria and aminoaciduria developing in the second decade and osteomalacia from the start of the fourth decade. Glomerular function deteriorates slowly but is compatible with a normal lifespan.

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Long-term study of family with Fanconi syndrome without cystinosis (Detoni-Debré-Fanconi syndrome)

Cited by 29 publications

References 40 publications

A Case Study of Adult-Onset Hypophosphatemic Osteomalacia with Idiopathic Fanconi Syndrome

A Case Study of Adult-Onset Hypophosphatemic Osteomalacia with Idiopathic Fanconi Syndrome

Comparison of growth in primary Fanconi syndrome and proximal renal tubular acidosis

The adult presenting idiopathic fanconi syndrome

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