008–Case Study: 3 Year Old Female with Hypophosphatasia, Treated with Asfotase Alfa Replacement

Asfotase alfa therapy for children with hypophosphatasia.

Background. Hypophosphatasia (HPP) is caused by loss-of-function mutation(s) of the gene that encodes the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP). Consequently, cell-surface deficiency of TNSALP phosphohydrolase activity leads to extracellular accumulation of inorganic pyrophosphate, a natural substrate of TNSALP and inhibitor of mineralization. Children with HPP can manif...

Pathophysiology of hypophosphatasia and the potential role of asfotase alfa

Hypophosphatasia (HPP) is an inherited systemic bone disease that is characterized by bone hypomineralization. HPP is classified into six forms according to the age of onset and severity as perinatal (lethal), perinatal benign, infantile, childhood, adult, and odontohypophosphatasia. The causative gene of the disease is the ALPL gene that encodes tissue-nonspecific alkaline phosphatase (TNAP). ...

Successful Asfotase Alfa Treatment in an Adult Dialysis Patient With Childhood-Onset Hypophosphatasia

Hypophosphatasia is an inherited disease characterized by reduced alkaline phosphatase activity, extracellular accumulation of inorganic pyrophosphate, and impaired bone mineralization. Asfotase alfa (AA) is a recombinant human alkaline phosphatase therapy approved for treatment of pediatric-onset hypophosphatasia. Studies show promising outcome in AA-treated children with hypophosphatasia; how...

16-year-old female with amenorrhea.

An 86-year-old female with lymphangioleiomyomatosis.

We wish to report a case of lymphangioleiomyomatosis in an 86-yr-old female who presented with acute breathlessness on a background of increasing dyspnoea over a 3-yr period. She had been told that she had chronic obstructive pulmonary disease 2 yrs prior to this presentation, despite having never smoked. At the time of admission she was taking regular nebulised salbutamol but no other respirat...