ZURÜCKGEZOGENER BEITRAG: Hyperphosphatasie und Hypophosphatasie im Kindesalter

Drees, Philipp; Schmidt, Daniel; Lewens, T.; Vetter, Thomas R.; Meurer, Andrea

doi:10.1007/s00132-007-1181-5

Cited by 3 publications

(2 citation statements)

References 21 publications

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“…Careful follow-up should be perform in this kind of patient to differentiate moderate form. Currently, there is no medical therapy for the disease [2,20]. Specific enzyme replacement is a possible way to manage HP [8,9].…”

Section: Discussionmentioning

confidence: 99%

Clinical and ALPL Gene Mutations Analysis in an Early Onset Chinese Odontohypophosphatasia Patient

Liang¹,

Liu²,

Gong³

2014

Am. J. Biomed. Sci.

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Objective: To describe a Chinese case with novel frame shift ALPL gene mutation that results in infantile onset odontohypophosphatasia. Methods: Clinical data and genomic DNA of the patient and his parents were collected. Alkaline phosphatase gene (ALPL)of the patient and his parents were PCR following with sequencing. Results: The patient had premature exfoliation of primary teeth at 11 month, and showed no sign of development retardation or rickets in 3 years follow-up. Serum alkaline phosphatase was found significantly decreased. Sequence analysis of ALPL gene reveal a de novo heterozygous missense mutation in exon 10 c.1162T>C(p.Y371H)which has been reported previously. In addition, a heterozygous frameshift mutation in exon 12 c.1532insC(p. L511Pfs*272) was found in the patient and his mother. This inserted base causes a frame shift voiding the original stop codon. As a consequence, the original protein composed of 524 amino acids is translated into a protein with 783 amino acids. Conclusion: We report an early onset Chinese Odontohypophosphatasia patient, and a novel frame-shift mutation in exon 12, c.1532insC, p.L511Pfs*272)

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Section: Discussionmentioning

confidence: 99%

Clinical and ALPL Gene Mutations Analysis in an Early Onset Chinese Odontohypophosphatasia Patient

Liang¹,

Liu²,

Gong³

2014

Am. J. Biomed. Sci.

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“…A typical bowing and anteromedial rotation of the tibia was corrected with tibial shaft osteotomies and Ilizarov fixators of both tibias about 10 years ago [7]. After these procedures, very slow healing of the bone with multiple revisions due to delayed union was observed.…”

Section: Case Reportmentioning

confidence: 99%

Bilateral Pseudarthrosis of the Femoral Neck in a 25-Year-Old Male with Hereditary Hypophosphatemic Rickets

Anthonissen

Ossendorf

Vetter

et al. 2014

Case Reports in Orthopedics

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Hereditary hypophosphatemic rickets (HHR) is a rare disorder of renal phosphate wasting and the most common form of heritable rickets. Here, we report a case of an active 25-year-old male with HHR showing atraumatic bilateral femoral neck pseudarthrosis after 4 years of consecutive knee pain. A conservative therapy was administered, taking into account both the risks of surgical treatment and the little impairment even in the sport activities which the patient experienced.

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Hypophosphatasia

Linglart

Duplan

2016

Curr Osteoporos Rep

103

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Hypophosphatasia is a rare disorder due to a mutation in the ALPL gene encoding the alkaline phosphatase (ALP) leading to a diminished activity of the enzyme in bone, liver, and kidney. Hypophosphatasia is a heterogeneous disease, ranging from extreme life-threatening forms revealed at birth in young infants presenting with severely impaired bone mineralization, seizures, and hypercalcemia, to young adults with premature exfoliation of their teeth without any other symptom. We will review the challenges of the clinical, biochemical, radiological, and genetic diagnosis. Schematically, the diagnosis relies on low ALP levels and, in most cases, on the genetic defect in the ALPL gene. An enzyme replacement therapy is now developed for hypophosphatasia; early results in the severe form of the disease are extremely encouraging. However, multidisciplinary care remains the core of treatment of hypophosphatasia encompassing nutritional support, adjustment of calcium and phosphate intake, monitoring of vitamin D levels, careful and personalized physical therapy, and regular dental monitoring and care.

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ZURÜCKGEZOGENER BEITRAG: Hyperphosphatasie und Hypophosphatasie im Kindesalter

Cited by 3 publications

References 21 publications

Clinical and ALPL Gene Mutations Analysis in an Early Onset Chinese Odontohypophosphatasia Patient

Clinical and ALPL Gene Mutations Analysis in an Early Onset Chinese Odontohypophosphatasia Patient

Bilateral Pseudarthrosis of the Femoral Neck in a 25-Year-Old Male with Hereditary Hypophosphatemic Rickets

Hypophosphatasia

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