scholarly journals Hypophosphatemic Rickets: Presenting Features of Fanconi—Bickel Syndrome

2011 ◽  
Vol 2011 ◽  
pp. 1-3 ◽  
Author(s):  
Mahua Roy ◽  
K. Bose ◽  
D. K. Paul ◽  
Puja Anand
Keyword(s):  
Glycogen Storage Disease ◽  
Growth Retardation ◽  
Storage Disease ◽  
Glycogen Storage ◽  
Hypophosphatemic Rickets ◽  
Tubular Dysfunction ◽  
Renal Tubular Dysfunction ◽  
Glycogen Accumulation ◽  
Proximal Renal Tubular Dysfunction ◽  
Renal Tubular

Fanconi-Bickel Syndrome (FBS) is a rare variety of glycogen storage disease (GSD). Characterized by massive hepatomegaly due to glycogen accumulation, severe hypophosphatemic rickets, and marked growth retardation due to proximal renal tubular dysfunction. We report a young boy presented as hypophosphatemic rickets with hepatomegaly and subsequently diagnosed as FBS.

Proximal Renal Tubular Dysfunction Related to Antiretroviral Therapy Among HIV-Infected Patients in an HIV Clinic in Mexico

2015 ◽  
Vol 29 (4) ◽  
pp. 181-185 ◽  
Author(s):  
Karen Andrade-Fuentes ◽  
José A. Mata-Marín ◽  
José I. López-De León ◽  
Bulmaro Manjarrez-Téllez ◽  
Jorge L. Sandoval Ramírez ◽  
...  
Keyword(s):  
Antiretroviral Therapy ◽  
Tubular Dysfunction ◽  
Renal Tubular Dysfunction ◽  
Proximal Renal Tubular Dysfunction ◽  
Renal Tubular

EFFECT OF INSULIN ON GROWTH RETARDATION IN TYPE I GLYCOGEN-STORAGE DISEASE

The Lancet ◽  
1978 ◽  
Vol 311 (8055) ◽  
pp. 107-108 ◽  
Author(s):  
O. Dulac ◽  
M. Odièvre ◽  
D. Alagille
Keyword(s):  
Glycogen Storage Disease ◽  
Growth Retardation ◽  
Storage Disease ◽  
Glycogen Storage ◽  
Type I

VITAMIN D DEPENDENCY: AN INHERITED POSTNATAL SYNDROME WITH SECONDARY HYPERPARATHYROIDISM

PEDIATRICS ◽  
1970 ◽  
Vol 46 (6) ◽  
pp. 871-880
Author(s):  
C. Arnaud ◽  
R. Maijer ◽  
T. Reade ◽  
C. R. Scriver ◽  
D. T. Whelan
Keyword(s):  
Vitamin D ◽  
Autosomal Recessive ◽  
Hypophosphatemic Rickets ◽  
First Year ◽  
Tubular Dysfunction ◽  
Renal Tubular Dysfunction ◽  
Recessive Trait ◽  
Daily Allowance ◽  
Renal Tubular ◽  
First Year Of Life

Three French-Canadian children in a large inbred pedigree each developed hypocalcemic, hypophosphatemic rickets in the latter half of their first year of life; there were also manifestations of generalized renal tubular dysfunction. These abnormalities, which mimic advanced Vitamin D deficiency, disappeared only when Vitamin D2 or D3 was given at about 100 times the recommended daily allowance; this indicated the diagnosis of Vitamin D dependency. Enamel hypoplasia was a prominent clinical finding; only those teeth which calcify postnatally were affected, indicating that the condition found does not affect Vitamin D-dependent nutrition in utero. The level of parathyroid hormone was elevated in serum before treatment; it fell to normal either after treatment with Vitamin D, or during intravenous infusion with a calcium solution sufficient to produce hypercalcemia. Vitamin D dependency appeared to be inherited as an autosomal recessive trait in this pedigree, but we could observe no phenotypic signs in presumably obligate heterozygotes. One of the three cases in the pedigree arose from outbreeding, suggesting that the mutant allele is probably not particularly rare in the population under our surveillance.

DISEASES OF THE RENAL TUBULES IN CHILDHOOD

PEDIATRICS ◽  
1957 ◽  
Vol 20 (2) ◽  
pp. 337-357
Author(s):  
Carolyn F. Piel
Keyword(s):  
Fanconi Syndrome ◽  
Storage Disease ◽  
Tubular Dysfunction ◽  
Renal Tubular Dysfunction ◽  
Renal Tubules ◽  
Hyperchloremic Acidosis ◽  
Renal Glycosuria ◽  
Vitamin D Resistant Rickets ◽  
Renal Tubular ◽  
Resistant Rickets

As indicated in the preceding sections of this review, it seems evident that renal diabetes insipidus, renal glycosuria, "cystinuria" and renal hyperchloremic acidosis are unquestionably renal tubular diseases. Vitamin D resistant rickets has tentatively been placed in the same category although it is recognized that the evidence for this classification is not yet thoroughly convincing. All of the findings of the Fanconi syndrome seem actually to represent a summation of the single tubular diseases, except "cystinosis." Known renal tubular dysfunction fails to explain the cystine-storage disease, cystinosis.

Proximal Renal Tubular Dysfunction in Severe Burns

1984 ◽  
Vol 4 (1) ◽  
pp. 44-47 ◽  
Author(s):  
John Lindquist ◽  
Charles Drueck ◽  
Norman M. Simon ◽  
Bruce Elson ◽  
Dan Hurwich ◽  
...  
Keyword(s):  
Tubular Dysfunction ◽  
Renal Tubular Dysfunction ◽  
Severe Burns ◽  
Proximal Renal Tubular Dysfunction ◽  
Renal Tubular
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