Source:http://linkedlifedata.com/resource/pubmed/id/21344632
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
3
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| pubmed:dateCreated |
2011-5-13
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| pubmed:abstractText |
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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| pubmed:grant | |
| pubmed:language |
eng
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| pubmed:journal | |
| pubmed:citationSubset |
IM
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| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Mar
|
| pubmed:issn |
1552-4833
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| pubmed:author | |
| pubmed:copyrightInfo |
Copyright © 2011 Wiley-Liss, Inc.
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| pubmed:issnType |
Electronic
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| pubmed:volume |
155A
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| pubmed:owner |
NLM
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| pubmed:authorsComplete |
Y
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| pubmed:pagination |
626-33
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| pubmed:meshHeading |
pubmed-meshheading:21344632-Base Sequence,
pubmed-meshheading:21344632-Child, Preschool,
pubmed-meshheading:21344632-Female,
pubmed-meshheading:21344632-Humans,
pubmed-meshheading:21344632-Hypercalciuria,
pubmed-meshheading:21344632-Hypophosphatemic Rickets, X-Linked Dominant,
pubmed-meshheading:21344632-Infant,
pubmed-meshheading:21344632-Infant, Newborn,
pubmed-meshheading:21344632-Male,
pubmed-meshheading:21344632-Molecular Sequence Data,
pubmed-meshheading:21344632-Mutation,
pubmed-meshheading:21344632-Nephrolithiasis,
pubmed-meshheading:21344632-Pedigree,
pubmed-meshheading:21344632-Polymorphism, Single Nucleotide,
pubmed-meshheading:21344632-Pregnancy,
pubmed-meshheading:21344632-RNA, Messenger,
pubmed-meshheading:21344632-Restriction Mapping,
pubmed-meshheading:21344632-Reverse Transcriptase Polymerase Chain Reaction,
pubmed-meshheading:21344632-Sodium-Phosphate Cotransporter Proteins, Type IIc
|
| pubmed:year |
2011
|
| pubmed:articleTitle |
Hereditary hypophosphatemic rickets with hypercalciuria and nephrolithiasis-identification of a novel SLC34A3/NaPi-IIc mutation.
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| pubmed:affiliation |
Department of Pediatric Endocrinology and Diabetes, Connecticut Children's Medical Center, Hartford, USA. pphulwa@ccmckids.org
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| pubmed:publicationType |
Journal Article,
Case Reports
|