Publications by authors named "Ana Maria Zarante Bahamon"
Introduction: Hypophosphatasia is a rare inherited systemic metabolic disorder, with an estimated prevalence in the severe forms of the disease of 1/100.000-1/300.000, that affects the typical architecture of bone, leading to defective mineralization during growth and remodeling.
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- - This study investigates pain, quality of life, and healthcare access for Colombian patients with hypophosphatasia (HPP), a genetic disease that varies greatly in severity.
- - Using three specific questionnaires, the research analyzed 18 HPP patients, revealing that issues related to overall health, vitality, and pain were prominent among participants.
- - Findings indicated that patients generally experienced mild to moderate pain and impairment in their quality of life, impacting daily activities, but with notable variability in individual responses.
Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a low-prevalence pathology mainly associated with pathogenic variants of the UMOD gene. It is characterized by the progressive deterioration of renal function, associated with hyperuricemia and accompanied by a family history of gout or hyperuricemia. Often, clinical variability and a lack of molecular testing results in diagnostic failure to determine the ADTKD-UMOD association.
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