ABSTRACT
Fabry disease is a rare X-linked lysosomal storage disorder that leads to the accumulation of globotriaosylceramide (Gb3) across various tissues, stemming from a deficiency in alpha-galactosidase A (GLA). This condition is characterized by a spectrum of clinical manifestations that can significantly complicate diagnosis. Classical symptoms typically include neuropathic pain, angiokeratomas, and significant involvement of the renal and cardiac systems. However, atypical presentations may obscure the underlying diagnosis, emphasizing the importance of maintaining a high level of clinical suspicion. This case report details the diagnostic journey of a 24-year-old female who initially presented with nephrotic syndrome, a presentation not commonly associated with Fabry disease. Subsequent genetic testing revealed a pathogenic variant in the GLA gene, confirming Fabry disease and highlighting the critical need for genetic analysis in cases of unexplained renal pathology. This case underscores the variability of Fabry disease presentations and the pivotal role of comprehensive diagnostic strategies in uncovering this complex disorder.
ABSTRACT
Introduction Disabilities and non-communicable diseases (NCDs) are prevalent among the elderly, significantly affecting their quality of life. Comprehensive population-based data are essential for effective healthcare planning and rehabilitation. This study aims to determine the prevalence of self-reported disabilities and compare Barthel Index scores among elderly individuals with and without NCDs. Methods A cross-sectional study was conducted at Dr. D. Y. Patil Medical College, Pune, involving 102 patients aged 60 years and above. Patients with a history of strokes or limb amputations were excluded. Data on demographics, comorbidities, and functional status were collected using a structured questionnaire designed based on Barthel Index scoring to assess the activities of daily living (ADL). Results The study included 102 participants: 58 males (56.9%) and 44 females (43.1%). Age distribution showed 73.5% in the 60-74 age group, 22.5% in the 75-84 age group, and 3.9% in the 85+ age group. Comorbidity data revealed that 37.3% had no comorbidities, 26.4% had one comorbidity, and 36.3% had two or more comorbidities. The mean Barthel Index scores were 87.11 for those without comorbidities, 83.89 for those with one comorbidity, and 82.30 for those with two or more comorbidities. The most affected activities were stair climbing (75.7%), bowel control (48.5%), and mobility (47.1%). Conclusion NCDs significantly impact daily activities in the elderly, underscoring the need for targeted healthcare interventions to improve their quality of life. This study highlights the importance of comprehensive care strategies to address the specific needs of elderly patients with comorbidities.