Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Fanconi-type hypophosphatemic rickets

Fanconi-type hypophosphatemic rickets is a group of disorders caused by unspecific proximal tubular damage. Because the filtrated phosphate is reabsorbed in the proximal tubule almost all proximal tubular dysfunction is accompanied by hyperphosphaturia. Some of them are known to cause bone disease. Accompanying symptoms include the typical features of Fanconi syndrome including low-molecular-weight proteinuria, glucosuria, or proximal tubular acidosis.

Systematic

Hypophosphatemic bone and kindney disease
Disorders of the renal phosphate transporters
FGF23-induced hypophosphatemic rickets
Fanconi-type hypophosphatemic rickets
Nephrolithiasis/osteoporosis, hypophosphatemic, 1
SLC34A1
X-linked recessive hypophosphatemic rickets
CLCN5
OCRL
Hypophosphatemic rickets with hyperparathyroidism
Osteoglophonic dysplasia
Raine syndrome
X-linked dominant hypophosphatemic rickets

References:

1.

Bolino A et. al. (1993) Genetic mapping in the Xp11.2 region of a new form of X-linked hypophosphatemic rickets.

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2.

Lloyd SE et. al. (1996) A common molecular basis for three inherited kidney stone diseases.

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3.

Oudet C et. al. (1997) A second family with XLRH displays the mutation S244L in the CLCN5 gene.

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4.

None (1998) X-linked hypercalciuric nephrolithiasis: clinical syndromes and chloride channel mutations.

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5.

Gambaro G et. al. (2004) Genetics of hypercalciuria and calcium nephrolithiasis: from the rare monogenic to the common polygenic forms.

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Update: Sept. 26, 2018