Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.1.3.1 (alkaline phosphatase)
 47,916 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hyperphosphatasia, or hereditary bone dysplasia with hyperphosphatasaemia, is a rare genetic disorder which is characterised by failure to transform woven into lamellar bone. Clinical, radiological and histological features establish the diagnosis, fractures, deformities, diffuse sclerosis on radiographs and high serum alkaline phosphatase being characteristic. We report the case of a 27-year-old man with follow-up at the same hospital for 20 years. Attempts at treatment with calcitonin and disocium etidronate (EHDP) failed, but stapling of the growth plates at the knee was successfully performed. Transverse "brittle" fractures of the humerus, lower leg and ribs healed normally, but internal fixation and late bone grafting were required for a subtrochanteric stress fracture of the femur at the age of 24 years. At present the patient has no clinical problems and leads a normal life.
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PMID:Idiopathic hyperphosphatasia with dermal pigmentation. A twenty-year follow-up. 300 27

Chronic idiopathic hyperphosphatasia (CIH), or juvenile Paget disease, is a rare disorder characterized by increased bone turnover and progressive enlargement of bones. We report a girl, 6 1/2 years old, with a history of three fractures, short stature, delayed eruption of teeth, and poor hair growth. She had a waddling gait, bone deformities, kyphoscoliosis, hyperlordosis, genu valgum and curvature of her limbs. She also had progressive hearing loss but other cranial nerves were unaffected. Laboratory studies indicated high bone turnover: serum alkaline phosphatase: 4047 IU/l (normal value: 150-550), urinary hydroxyproline: 1205 mg/g creatinine (n.v.: 60-160), and urinary CrossLaps: 4360 microg/mmol creatinine (n.v.: 450-2100). Radiographs demonstrated generalized skeletal involvement with osteoectasia (expansion) of long bones, diffuse sclerosis, cotton wool appearance of the skull, absence of mastoid pneumatization, and crushed dorsal and lumbar vertebrae. Iliac crest biopsy was compatible with CIH. Cyclical intravenous pamidronate (1 mg/kg/day during 3 h, 3 consecutive days at 2- to 3-month intervals) was administered during 2 years with oral calcium 500 mg and vitamin D 1000 IU/day. Oral pamidronate was added after 11 months of i.v. therapy. Treatment-induced remarkable clinical and radiographic improvement with normalization of bone markers of osteoblastic and osteoclastic activity, including bone alkaline phosphatase, urinary hydroxyproline, and urinary CrossLaps.
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PMID:Chronic idiopathic hyperphosphatasia: normalization of bone turnover with cyclical intravenous pamidronate therapy. 1520 59

Skeletal fluorosis is a metabolic bone disease caused by accumulation of fluoride and is generally associated with chronic exposure to fluoride-contaminated groundwater, a phenomenon endemic to developing countries. Whereas elevated water fluoride concentrations do not constitute a public health issue in the United States, emergence of skeletal fluorosis as a sequela of chronic recreational exposures has been described. In this case report, our 33-year-old male patient with a history of major depressive disorder and substance abuse was hospitalized for hyperkalemia and acute kidney injury discovered on routine bloodwork due to concomitant nonsteroidal anti-inflammatory drugs (NSAID) and antihypertensive use. Upon hospital admission, he was found to be anemic with a significantly elevated alkaline phosphatase. Given a history of low back pain in the setting of these laboratory abnormalities, lower spine and pelvic imaging revealed diffusely increased bone density and sclerosis. Hematologic evaluation ensued to include a peripheral smear and bone marrow biopsy. Given the patient's history of computer cleaner inhalant abuse, serum and urinary fluoride levels were obtained. Serum fluoride returned within normal limits though urinary fluoride was increased. Bone marrow histopathology revealed prominent diffuse sclerosis which in conjunction with urinary fluoride levels and computer cleaner inhalant abuse history supported the diagnosis of skeletal fluorosis. Skeletal fluorosis in the United States is rare and presents with non-specific findings requiring a high index of suspicion based on a detailed patient history for expedient diagnosis.
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PMID:Skeletal Fluorosis: An Unusual Manifestation of Computer Cleaner Inhalant Abuse. 3264 69