Perinatal-onset Hypophosphatasia

Perinatal-onset Hypophosphatasia (HPP) is a rare genetic disorder that affects the bony skeleton and soft tissues of newborns. HPP is caused by mutations in the ALPL gene, which is responsible for the production of the protein tissue-nonspecific alkaline phosphatase (TNSALP). In newborns, the lack of TNSALP affects bone matrix mineralization and regulation of calcium, phosphorus, and vitamin D.

Children with perinatal-onset HPP show multiple signs and symptoms, including muscle weakness, breathing difficulties, joint pain and limited joint movement, calcium deposits in soft tissues such as heart, lungs, and kidneys, and an increased growth rate. Treatment may include respiratory support, physical therapy, and administration of calcium and vitamin D supplements. In some cases, violence and pain management may be necessary.

If left untreated, perinatal-onset HPP can cause a wide range of life-threatening complications such as respiratory failure, recurrent infections, and even death. Long-term prognosis is dependent on the severity of the condition and associated complications.

Diagnosis of Perinatal-onset Hypophosphatasia

The diagnosis of perinatal-onset HPP is made based on clinical findings and laboratory evidence. It can sometimes be difficult to diagnose because of its rarity and lack of awareness.

A physician may diagnose HPP based on the presence of certain signs and symptoms (muscle weakness, joint pain, respiratory difficulties, etc.) that are indicative of this condition.
Laboratory tests, such as urine and blood tests, may be used to measure enzyme activity levels in order to diagnose HPP.
Genetic testing may also be performed in order to identify the ALPL gene mutation that is causing HPP. This is the most accurate diagnosis method available.

Treatment for Perinatal-onset Hypophosphatasia

The treatment for perinatal-onset HPP is based on the individual's symptoms and severity of the condition. Treatment may include:

Respiratory support with ventilator or oxygen therapy.
Physical therapy and other supportive care to aid in mobility and range of motion.
Nutritional support to ensure adequate intake of calcium and vitamin D.
Pain management and medications to reduce inflammation.
Surgery to correct deformities in the bones or joints, if needed.

There is currently no cure for perinatal-onset HPP. With timely diagnosis and appropriate management, the prognosis for affected individuals is dependent on the severity of the disease and associated complications.