Recurrent Transient Hyperphosphatasemia of Infancy in an Adult

Abstract We report a case of recurrent transient hyperphosphatasemia in a 29-year-old man with immune deficiency. He had serum alkaline phosphatase (ALP; EC 3.1.3.1) activity 16.9- and 4.8-fold greater than the upper reference limit on two occasions; the activity returned to normal within 2 months on the first and within 1 month on the second. On both occasions we observed the typical electrophoretic pattern for ALP isoenzymes seen in transient hyperphosphatasemia of infancy. We noted no evidence of liver or bone disease. Recognition of the occurrence of transient hyperphosphatasemia of infancy in adults, although rare (it is the fifth case reported), seems as important as in children so that unnecessary extensive investigations are avoided.

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Transient hyperphosphatasemia of infancy and early childhood: clinical and biochemical features of 21 cases and literature review.

Clinical Chemistry ◽

10.1093/clinchem/33.2.313 ◽

1987 ◽

Vol 33 (2) ◽

pp. 313-318 ◽

Cited By ~ 36

Author(s):

P Stein ◽

S B Rosalki ◽

A Y Foo ◽

M Hjelm

Keyword(s):

Alkaline Phosphatase ◽

Early Childhood ◽

Literature Review ◽

Bone Disease ◽

Reference Limit ◽

Alkaline Phosphatase Isoenzymes ◽

Upper Reference Limit ◽

Infancy And Early Childhood ◽

Increased Activity ◽

Biochemical Features

Abstract Clinical and biochemical features of transient hyperphosphatasemia of infancy and early childhood are reviewed in 21 patients we have studied and in a further 93 cases reported in the literature. The diagnosis is suggested by the finding of an increased activity of alkaline phosphatase (EC 3.1.3.1) in plasma, typically more than fivefold the adult upper reference limit, in a child under five years of age, without evidence of liver or bone disease. The condition is confirmed by the presence of a characteristic pattern of alkaline phosphatase isoenzymes and by the normalization of the enzyme's activity in plasma within approximately three months. The etiology of the condition and possible mechanisms of the enzyme increase are discussed.

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Serum Gamma-Glutamyl Transpeptidase Activity as an Indicator of Disease of Liver, Pancreas, or Bone

Clinical Chemistry ◽

10.1093/clinchem/18.4.358 ◽

1972 ◽

Vol 18 (4) ◽

pp. 358-362 ◽

Cited By ~ 112

Author(s):

Gifford Lum ◽

S Raymond Gambino

Keyword(s):

Alkaline Phosphatase ◽

Liver Disease ◽

Viral Hepatitis ◽

Bone Disease ◽

Leucine Aminopeptidase ◽

Serum Alkaline Phosphatase ◽

Metastatic Carcinoma ◽

Gamma Glutamyl Transpeptidase ◽

Serum Alkaline Phosphatase Activity ◽

Glutamyl Transpeptidase

Abstract Serum γ-glutamyl transpeptidase (GGT), leucine aminopeptidase, alkaline phosphatase, alanine aminotransferase, and aspartate aminotransferase activities were assayed in controls and in patients with liver, pancreatic, or bone disease. GGT activity was above normal in all forms of liver disease studied (viral hepatitis, cirrhosis, cholecystitis, metastatic carcinoma to liver, pancreatic carcinoma, liver granuloma, and acute pancreatitis). GGT more sensitively indicated hepatic disease than did alkaline phosphatase, much more so than did leucine aminopeptidase. GGT was disproportionately more active in relation to the transaminases in cases of intraor extrahepatic biliary obstruction; the reverse was true in cases of viral hepatitis. GGT activity was normal in children, adolescents, and pregnant women, and in cases of bone disease and renal failure. Kinetic measurement of GGT activity offers a simple, sensitive, and direct means for distinguishing whether bone or liver is the source of increased serum alkaline phosphatase activity. Activity was highest in obstructive liver disease.

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Long-Term Follow-up of Hypophosphatemic Bone Disease Associated With Elemental Formula Use: Sustained Correction of Bone Disease After Formula Change or Phosphate Supplementation

Clinical Pediatrics ◽

10.1177/0009922820941097 ◽

2020 ◽

Vol 59 (12) ◽

pp. 1080-1085

Author(s):

Abigail S. Eswarakumar ◽

Nina S. Ma ◽

Leanne M. Ward ◽

Philippe Backeljauw ◽

Halley Wasserman ◽

...

Keyword(s):

Alkaline Phosphatase ◽

Bone Disease ◽

Serum Alkaline Phosphatase ◽

Serum Phosphorus ◽

Phosphorus Concentration ◽

Disease Extent ◽

Elemental Formula ◽

Radiology Reports ◽

Phosphate Supplementation

In this article, we describe the long-term outcomes of children who were previously reported to have developed hypophosphatemic bone disease in association with elemental formula use. An extended chart review allowed for an updated report of 34 children with regard to severity/duration of bone disease, extent of recovery, and time to correction using radiology reports and biochemical data. After implementation of formula change and/or phosphate supplementation, we found that serum phosphorus concentration increased and serum alkaline phosphatase activity decreased in all patients, normalizing by 6.6 ± 4.0 (mean ± SD) months following diagnosis. The decrease in serum alkaline phosphatase from diagnosis to the time of correction was moderately correlated with the concurrent increase in serum phosphorus ( R = 0.48, P < .05). Age at diagnosis significantly correlated with time to resolution ( R = 0.51, P = .01). This study supports the earlier report that bone disease associated with hypophosphatemia during elemental formula use responds to formula change and/or phosphate supplementation.

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Technetium-99m Polyphosphate Bone Image for Early Detection of Skeletal Metastasis

Nuklearmedizin ◽

10.1055/s-0038-1624869 ◽

1974 ◽

Vol 13 (04) ◽

pp. 330-340

Author(s):

W. H. Blahd ◽

G. T. Krishnamurthy

Keyword(s):

Alkaline Phosphatase ◽

Bone Disease ◽

Serum Alkaline Phosphatase ◽

Skeletal Metastasis ◽

Normal Serum ◽

Metastatic Bone Disease ◽

Bone Lesions ◽

Elevated Alkaline Phosphatase ◽

Technetium 99M ◽

Calcium Phosphorus

SummaryTechnetium 99m-polyphosphate bone images are correlated with bone roentgenography, and serum calcium, phosphorus and alkaline phosphatase in 91 patients with suspected bone metastasis. Technetium polyphosphate bone images are the most sensitive and serum level of calcium and phosphorus are the least sensitive indicator of bone lesions. Bone roentgenography is not as sensitive as technetium polyphosphate images. Abnormal bone images with normal or abnormal bone roentenography associated with increased alkaline phosphatase in the absence of liver metastasis are highly suggestive of metastatic bone disease. Abnormal bone images adjoining the joints, associated with normal serum alkaline phosphatase and abnormal joint roentgenography suggest arthritis. It is recommended that technetium 99m-labelled phosphate bone images are considered to be the diagnostic procedure of choice to detect skeletal lesions. Polyphosphate bone images are highly sensitive, with the combination of elevated alkaline phosphatase they become relatively more specific for a metastatic bone disease.

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Bone isoenzyme of serum alkaline phosphatase and serum inorganic phosphate in metabolic bone disease of prematurity

Acta Paediatrica ◽

10.1111/j.1651-2227.2000.tb00395.x ◽

2000 ◽

Vol 89 (7) ◽

pp. 867-873 ◽

Cited By ~ 73

Author(s):

MC Backström ◽

T Kouri ◽

A-L Kuusela ◽

H Sievänen ◽

A-M Koivisto ◽

...

Keyword(s):

Alkaline Phosphatase ◽

Bone Disease ◽

Inorganic Phosphate ◽

Metabolic Bone Disease ◽

Serum Alkaline Phosphatase ◽

Metabolic Bone ◽

Serum Inorganic Phosphate

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Application of a Continuous Spectrophotometric Assay for 5'Nucleotidase Activity in Normal Subjects and Patients with Liver and Bone Disease

Clinical Chemistry ◽

10.1093/clinchem/15.10.931 ◽

1969 ◽

Vol 15 (10) ◽

pp. 931-939 ◽

Cited By ~ 32

Author(s):

Alan Belfield ◽

David M Goldberg

Keyword(s):

Alkaline Phosphatase ◽

Bone Disease ◽

Serum Alkaline Phosphatase ◽

Hepatic Metastases ◽

Normal Subjects ◽

Enzyme Concentration ◽

Nucleotidase Activity ◽

Kinetic Assay ◽

Serum Alkaline Phosphatase Activity ◽

Parenchymal Liver

Abstract Serum 5'nucleotidase activity has been measured by a coupled kinetic assay in which adenosine formed by hydrolysis of adenosine 5'-monophosphate in the presence of 150-fold excess of β-glycerophosphate is converted to inosine by adenosine deaminase, with a consequent decrease in absorbance at 265 nm. The method gives activity in proportion to enzyme concentration so long as the rate of decrease of absorbance at 265 nm does not exceed 0.025/min, and not more than 30% of the substrate is consumed. The normal range established in 517 healthy adults was 0-15 mU/ml. A significant correlation between enzyme activity and age was found in females but not in males. Raised levels of 5'nucleotidase activity were found in 92% of patients with obstructive jaundice, 70% of patients with parenchymal liver disease, 81% of patients with hepatic metastases, and 11% of patients with bone disease. The estimation is useful in aiding the elucidation of raised serum alkaline phosphatase activity, and is of value as a liver function test, but is not as frequently increased as alkaline phosphatase in all classes of hepatobiliary disease.

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Modified Serum ALP Values and Timing of Apparition of Knee Epiphyseal Ossification Centers in Preterm Infants with Cholestasis and Risk of Concomitant Metabolic Bone Disease of Prematurity

Nutrients ◽

10.3390/nu12123854 ◽

2020 ◽

Vol 12 (12) ◽

pp. 3854

Author(s):

Sandra Llorente-Pelayo ◽

Pablo Docio ◽

Bernardo A. Lavín-Gómez ◽

María T. García-Unzueta ◽

Isabel de las Cuevas ◽

...

Keyword(s):

Alkaline Phosphatase ◽

Preterm Infants ◽

Bone Disease ◽

Metabolic Bone Disease ◽

Serum Alkaline Phosphatase ◽

Bone Mineralization ◽

Ultrasound Monitoring ◽

Metabolic Bone ◽

Ossification Centers ◽

Preterm Newborns

The usefulness of serum alkaline phosphatase (ALP) and phosphorous in screening and monitoring of metabolic bone disease of prematurity (MBDP) still has some limitations, especially in preterm infants with concomitant conditions such as cholestasis. We aimed to assess a modification of serum ALP (M-ALP) as a biomarker for MBDP in preterm infants, and the use of ultrasound monitoring for the apparition of knee ossification centers as marker of bone mineralization. Biochemical and clinical registers were taken from 94 preterm newborns <32 weeks. A significant correlation existed between serum ALP and direct bilirubin (DB), expressed by the regression equation: M-ALP (IU/L) = 302.1 + 96.9 (DB (mg/dL)). The ratio ALP/M-ALP > 1 was demonstrated to be more specific (87.5%) in the diagnosis of MBDP than the cut-off value of serum ALP > 500 IU/L (62.5%). ALP/M-ALP > 1 showed 100% sensitivity and specificity for the diagnosis of MBDP, and a good correlation with specific bone ALP (B-ALP). Patients with the knee nucleus by post-menstrual week 37 had lower B-ALP compared to patients with no nucleus, and no patients with MBDP presented the nucleus by the 40th week. In the absence of reliable specific B-ALP, reinterpreting serum ALP values by M-ALP plus monitoring of knee ossification centers contribute to better management of MBDP in preterm infants with cholestasis.

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Screening of Serum Alkaline Phosphatase and Phosphate Helps Early Detection of Metabolic Bone Disease in Extremely Low Birth Weight Infants

Frontiers in Pediatrics ◽

10.3389/fped.2021.642158 ◽

2021 ◽

Vol 9 ◽

Author(s):

Hui Zhang ◽

Qiong Jia ◽

Meihua Piao ◽

Yanmei Chang ◽

Jinghui Zhang ◽

...

Keyword(s):

Alkaline Phosphatase ◽

Birth Weight ◽

Early Detection ◽

Gestational Age ◽

Bone Disease ◽

Metabolic Bone Disease ◽

Serum Alkaline Phosphatase ◽

Extremely Low Birth Weight ◽

Metabolic Bone ◽

Male Sex

Background: Extremely low birth weight (ELBW, <1,000 g) infants have a high risk of metabolic bone disease (MBD). Because of the late appearance of radiological signs, diagnosis of MBD in ELBW infants might be delayed, and its prevalence underestimated in this group of patients. This study adopted serial screening of serum alkaline phosphatase (ALP) and phosphate (P) of ELBW infants to determine whether such screening is helpful for the early detection of MBD.Materials and Methods: We performed a retrospective study of preterm infants with a gestational age ≤ 31 weeks and birth weight <1,000 g. MBD was absent (ALP ≤500 IU/L), mild (ALP >500 IU/L, P ≥4.5 mg/dL), and severe (ALP >500 IU/L, P <4.5 mg/dL); MBD was divided into early MBD (≤4 weeks after birth) and late MBD (>4 weeks after birth) according to the time of onset.Results: A total of 142 ELBW infants were included, with a median gestational age of 28.1 (26.5–29.7) weeks and a median birth weight of 875 (818–950) g. Seventy-three cases of MBD were diagnosed, and the total prevalence was 51.4% (mild MBD, 10.6%; and severe MBD, 40.8%). Male sex, breastfeeding, and sepsis would increase the risk of severe MBD. Most MBD in ELBW infants occurred at 3–4 weeks after birth. Sixty-two percent (45/73) of infants were diagnosed as having early MBD, which are diagnosed earlier than late MBD [24 (21–26) vs. 39 (36–41), t = −7.161; P < 0.001]. Male sex [odds ratio (OR), 2.86; 95% confidence interval (CI), 1.07–7.64; P = 0.036], initial high ALP levels (OR, 1.02; 95% CI, 1.01–1.03; P < 0.001), and breastfeeding (OR, 5.97; 95% CI, 1.01–25.12; P = 0.049) are independent risk factors for the development of early MBD.Conclusion: The risk of MBD among ELBW infants is very high. Most cases occurred early and were severe. Male sex, initial high ALP levels, and breastfeeding are closely related to the increased risk of early MBD. Serial screening of serum ALP and P helps early detection of MBD; it is recommended to start biochemical screening for ELBW infants 2 weeks after birth and monitor their biochemical markers weekly.

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