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Hereditary hypophosphatemic rickets with hypercalciuria and
nephrolithiasis-identification of a novel SLC34A3/NaPi-IIc mutation
#MMPMID21344632
Phulwani P
; Bergwitz C
; Jaureguiberry G
; Rasoulpour M
; Estrada E
Am J Med Genet A
2011[Mar]; 155A
(3
): 626-33
PMID21344632
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Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is characterized
by rickets, hyperphosphaturia, hypophosphatemia, elevated
1,25-dihydroxyvitamin-D, increased gastrointestinal calcium absorption and
hypercalciuria. Serum calcium, 25-hydroxyvitamin-D and PTH levels are normal.
Here we describe a boy with HHRH, nephrolithiasis, and compound heterozygosity
for one previously described mutation (g.4225_50del) and a novel splice mutation
(g.1226G>A) in SLC34A3, the gene encoding the renal sodium-phosphate
co-transporter NaPi-IIc. The patient's mother and grandmother are carriers of
g.4225_50del, and both have a history of nephrolithiasis associated with
hypercalciuria and elevated 1,25-dihydroxyvitamin-D. His three siblings (2-6
years old), who are also carriers of g.4225_50del, have hypercalciuria but so far
their renal ultrasounds are normal. Thus, SLC34A3/NaPi-IIc mutations appear to be
associated with variable phenotypic changes at presentation, which can include
recurrent nephrolithiasis.
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