Clinical characteristics of perinatal lethal hypophosphatasia: A report of 6 cases

Clinical Pediatric Endocrinology

Volumn 19, Issue 1, 2010, Pages 7-13

  Nakamura Utsunomiya, Akari ^a   Okada, Satoshi ^a   Hara, Keiichi ^a   Miyagawa, Shinichiro ^a   Takeda, Kanae ^b   Fukuhara, Rie ^c   Nakata, Yusei ^d   Hayashidani, Michiko ^d   Tachikawa, Kanako ^e   Michigami, Toshimi ^e   Ozono, Keiichi ^f   Kobayashi, Masao ^a  

^a HIROSHIMA UNIVERSITY   (Japan)

^b Kure Mutual Hospital   (Japan)

^c HIROSHIMA PREFECTURAL HOSPITAL   (Japan)

^d HIROSHIMA CITY HOSPITAL   (Japan)

^e RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

^f OSAKA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

Alkaline phosphatase; ALP; ALPL; Hypophosphatasia; Perinatal lethal form

Indexed keywords

ALKALINE PHOSPHATASE; CLONAZEPAM; DIAZEPAM; LIDOCAINE; PHENOBARBITAL; PHOSPHOETHANOLAMINE; PYRIDOXINE; VALPROIC ACID; VITAMIN K GROUP;

ABSENCE; ALKALINE PHOSPHATASE BLOOD LEVEL; ARTICLE; ARTIFICIAL VENTILATION; BONE MINERALIZATION; CLINICAL ARTICLE; CLINICAL FEATURE; CONVULSION; DISEASE COURSE; DISEASE SEVERITY; DRUG DOSE INCREASE; FEMALE; FETUS ECHOGRAPHY; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HYPOPHOSPHATASIA; INFANT; LETHALITY; LONG BONE; LUNG HYPOPLASIA; MALE; NEWBORN; PERINATAL DEATH; PERINATAL PERIOD; RESPIRATORY DISTRESS; RESPIRATORY FAILURE; TONIC SEIZURE; TRACHEOTOMY;

EID: 77949396602     PISSN: 09185739     EISSN: 13477358     Source Type: Journal    
DOI: 10.1297/cpe.19.7     Document Type: Article

References (13)

1. Michigami T, Uchihashi T, Suzuki A, Tachikawa K, Nakajima S, Ozono K. Common mutations F310L and T1559del in the tissue-nonspecific alkaline phosphatase gene are related to distinct phenotypes in Japanese patients with hypophosphatasia. Eur J Pediatr 2005;164:277-82.
2. Mornet E. Hypophosphatasia. Orphanet J Rare Dis 2007;2:40.
3. Moore CA, Curry CJ, Henthorn PS, Smith JA, Smith JC, O'Lague P, et al. Mild autosomal dominant hypophosphatasia: in utero presentation in two families. Am J Med Genet 1999;86:410-5.
4. Pauli RM, Modaff P, Sipes SL, Whyte MP. Mild hypophosphatasia mimicking severe osteogenesis imperfecta in utero: bent but not broken. Am J Med Genet 1999;86:434-8.
5. Shohat M, Rimoin DL, Gruber HE, Lachman RS. Perinatal lethal hypophosphatasia: clinical, radiologic and morphologic findings. Pediatr Radiol 1991;21:421-7.
6. Zankl A, Mornet E, Wong S. Specific ultrasonographic features of perinatal lethal hypophosphatasia. Am J Med Genet A 2008;146A:1200-4.
7. Litmanovitz I, Reish O, Dolfin T, Arnon S, Regev R, Grinshpan G, et al. Glu274Lys/Gly309Arg mutation of the tissue-nonspecific alkaline phosphatase gene in neonatal hypophosphatasia associated with convulsions. J Inherit Metab Dis 2002;25:35-40.
8. Whyte MP, Mahuren JD, Fedde KN, Cole FS, McCabe ER, Coburn SP. Perinatal hypophosphatasia: tissue levels of vitamin B6 are unremarkable despite markedly increased circulating concentrations of pyridoxal-5'-phosphate. Evidence for an ectoenzyme role for tissue-nonspecific alkaline phosphatase. J Clin Invest 1988;81:1234-9.
9. Kozlowski K, Sutcliffe J, Barylak A, Harrington G, Kemperdick H, Nolte K, et al. Hypophosphatasia. Review of 24 cases. Pediatr Radiol 1976;5:103-17.
10. Ozono K, Yamagata M, Michigami T, Nakajima S, Sakai N, Cai G, et al. Identification of novel missense mutations (Phe310Leu and Gly439Arg) in a neonatal case of hypophosphatasia. J Clin Endocrinol Metab 1996;81:4458-61.
11. Brun-Heath I, Chabrol E, Fox M, Drexler K, Petit C, Taillandier A, et al. A case of lethal hypophosphatasia providing new insights into the perinatal benign form of hypophosphatasia and expression of the ALPL gene. Clin Genet 2008;73:245-50.
12. Fauvert D, Brun-Heath I, Lia-Baldini A-S, Bellazi L, Taillandier A, Serre J-L, et al. Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterogosity for severe and moderate alleles. BMC Medical Genetics 2009;10:51.
13. Whyte MP, Kurtzberg J, McAlister WH, Mumm S, Podgornik MN, Coburn SP, et al. Marrow cell transplantation for infantile hypophosphatasia. J Bone Miner Res 2003;18:624-36.