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Infantile hypophosphatasia diagnosed at 4 months and surviving at 2 years
Insights
Infantile hypophosphatasia typically leads to early death, but one patient survived to age 2 with weekly fresh plasma transfusions. This enzyme replacement therapy showed clinical and radiological improvements, suggesting a potential treatment for this severe condition.
Area of Science:
- Biochemistry
- Pediatrics
- Genetics
Background:
- Infantile hypophosphatasia is a severe genetic disorder characterized by deficient alkaline phosphatase activity.
- The disease typically presents with poor bone mineralization and has a high mortality rate within the first 18 months of life.
Observation:
- A patient with infantile hypophosphatasia exhibited an unexpectedly favorable clinical course, surviving beyond 2 years of age.
- The patient received weekly fresh plasma transfusions between 5 and 10 months of age to supplement the deficient enzyme.
Findings:
- Treatment with fresh plasma transfusions led to progressive improvement in both clinical symptoms and radiological signs of hypophosphatasia.
- This suggests that plasma transfusions may serve as an effective enzyme replacement therapy for this condition.
Implications:
- Fresh plasma transfusions show promise as a potential therapeutic strategy for infantile hypophosphatasia.
- Further studies on larger cohorts are warranted to confirm the efficacy and long-term benefits of this substitutive therapy.
Abstract:
The authors describe a patient with infantile form of hypophosphatasia who has presented a favourable course and is surviving at the age of 2 years, whereas usually the subjects affected by this disease show an unfavourable prognosis with death within the first 18 months of life. From the age of 5 to 10 months, the patient has been treated with weekly fresh plasma transfusions, with the purpose to supply the deficient enzyme. During treatment a progressive improvement of the clinical and radiological signs was observed. The authors hope that the study of other patients affected by this disease and treated with fresh plasma transfusions, might confirm the effectiveness of this substitutive therapy.