Document Detail

Hypophosphatemic rickets accompanying congenital microvillous atrophy.
MedLine Citation:
PMID:  9844114     Owner:  NLM     Status:  MEDLINE    
This report concerns an 11-year-old boy who manifested hypophosphatemic rickets associated with congenital microvillous atrophy (CMA). He had been suffering from vomiting and severe diarrhea from the first day of life and had been treated with total parenteral nutrition (TPN) since he was 67 days old. At 4 years of age, intestinal biopsy resulted in a diagnosis of CMA. He was admitted to our hospital complaining of leg pain at the age of 11. Laboratory data revealed hypophosphatemia, elevated serum 1, 25-dihydroxyvitamin D (1,25(OH)2D) levels, and hypercalciuria. A roentgenogram showed rickets in the extremities. A balance study of phosphate in urine and stool indicated that the amount of phosphate leaking into the stool was greater than that into the urine. Moreover, the total amount of phosphate leaking from both the intestine and kidney exceeded the amount of phosphate intake from TPN. The rickets was healed by increasing the phosphate concentration in TPN. This case is different from X-linked hypophosphatemic rickets but similar to hereditary hypophosphatemic rickets with hypercalciuria (HHRH) in terms of hypercalciuria and elevated serum 1,25(OH)2D levels. The effectiveness of phosphate treatments used here is also similar to that used for HHRH. However, this type of hypophosphatemic rickets is unique in that phosphate leaking into the intestine plays an important role in its pathogenesis.
K Kagitani; T Yamamoto; K Miki; S Matsumoto; M Shima; H Tajiri; T Harada; S Okada
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research     Volume:  13     ISSN:  0884-0431     ISO Abbreviation:  J. Bone Miner. Res.     Publication Date:  1998 Dec 
Date Detail:
Created Date:  1999-02-03     Completed Date:  1999-02-03     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  8610640     Medline TA:  J Bone Miner Res     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  1946-52     Citation Subset:  IM    
Department of Pediatrics, Faculty of Medicine, Osaka University, Osaka, Japan.
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MeSH Terms
Absorptiometry, Photon
Bone Density
Calcitriol / blood
Calcium / urine
Diarrhea / complications,  pathology
Hypophosphatemia, Familial / complications,  pathology*,  therapy
Intestinal Mucosa / abnormalities*
Microvilli / pathology
Parenteral Nutrition, Total
Reg. No./Substance:
32222-06-3/Calcitriol; 7440-70-2/Calcium

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