Introduction: Autoimmune polyendocrinopathies (AP) represent a group of rare concomitant pathologies, making them underdiagnosed. The objective was to study their profile at the Medical Clinic II of the Abass Ndao Hos...Introduction: Autoimmune polyendocrinopathies (AP) represent a group of rare concomitant pathologies, making them underdiagnosed. The objective was to study their profile at the Medical Clinic II of the Abass Ndao Hospital. Patients and Methods: This was an observational, descriptive and analytical study, lasting 24 months, from January 1, 2020 to December 31, 2022. We assessed the epidemiological, clinical and paraclinical characteristics of the patients and classified the APs found. Results: We included 40 patients divided into type III (38 cases) and IV (2 cases). A female predominance was noted with a sex ratio of 0.21. The mean age was 38.6 years. A family history of component diseases of autoimmune polyendocrine syndrome (APS) was found in 62.5%. Goiter (80%) was the main clinical sign present. All 38 patients with ISAP-3 had autoimmune thyroiditis, including 29 cases of Graves’ disease (72.5%) and 9 cases of Hashimoto’s thyroiditis (22.5%). They were associated with either type 1 diabetes (57.9%), Biermer’s disease (21.1%), vitiligo + alopecia (18.4%), lupus (2.6%). The 2 patients with AP-4 had Biermer’s disease associated with either Addison’s disease or type 1 diabetes. Management depended on the pathologies present and their possible complications. The immunological phenomena were also controlled. Conclusion: This series is globally similar to the literature. The polymorphous character of the clinical pictures requires a better collaboration between specialists leading to a clinical and holistic synthesis.展开更多
The X-linked adrenoleukodystrophy (ALD) is a severe neurodegenerative disorder due to mutations in the ABCD1 gene. Objective: To report a case of a 19-year-old man with adrenal insufficiency due to adrenoleukodystroph...The X-linked adrenoleukodystrophy (ALD) is a severe neurodegenerative disorder due to mutations in the ABCD1 gene. Objective: To report a case of a 19-year-old man with adrenal insufficiency due to adrenoleukodystrophy. Method: Case report and literature review. Result: A previously healthy 19-year-old male patient was admitted to the emergency room with nausea and vomiting for 5 days, who progressed to abdominal pain, severe asthenia, and fever (38.5°C). He referred progressive darkening of the skin, oral mucosa, tongue and nail bed of the hands and feet, observed in the last 6 years. Emergency laboratory evaluation showed severe hyponatremia and hyperkalemia, which, together with decreased plasma cortisol, directed the investigation to causes of adrenal insufficiency. High ACTH (Adrenocorticotropic hormone) and very long chain fatty acid levels closed the diagnosis. Discussion: ALD is characterized by progressive demyelination in the central and peripheral nervous system and adrenal insufficiency consequence to the accumulation of very long chain fatty acids (VLCFA) in the adrenal. The overall incidence of ALD is 1:17,000. Adrenal insufficiency may be the first symptom of ALD in boys and adults. The diagnosis is based on the measurement of VLCFA plasma levels. Allogeneic bone marrow transplantation is the only treatment that provides a permanent cure when the procedure is performed at an early stage of brain demyelination, i.e. when patients are asymptomatic, although brain magnetic resonance imaging (MRI) is abnormal. Treatment of Addison’s disease is obligatory, but does not change the course of neurological symptoms.展开更多
文摘Introduction: Autoimmune polyendocrinopathies (AP) represent a group of rare concomitant pathologies, making them underdiagnosed. The objective was to study their profile at the Medical Clinic II of the Abass Ndao Hospital. Patients and Methods: This was an observational, descriptive and analytical study, lasting 24 months, from January 1, 2020 to December 31, 2022. We assessed the epidemiological, clinical and paraclinical characteristics of the patients and classified the APs found. Results: We included 40 patients divided into type III (38 cases) and IV (2 cases). A female predominance was noted with a sex ratio of 0.21. The mean age was 38.6 years. A family history of component diseases of autoimmune polyendocrine syndrome (APS) was found in 62.5%. Goiter (80%) was the main clinical sign present. All 38 patients with ISAP-3 had autoimmune thyroiditis, including 29 cases of Graves’ disease (72.5%) and 9 cases of Hashimoto’s thyroiditis (22.5%). They were associated with either type 1 diabetes (57.9%), Biermer’s disease (21.1%), vitiligo + alopecia (18.4%), lupus (2.6%). The 2 patients with AP-4 had Biermer’s disease associated with either Addison’s disease or type 1 diabetes. Management depended on the pathologies present and their possible complications. The immunological phenomena were also controlled. Conclusion: This series is globally similar to the literature. The polymorphous character of the clinical pictures requires a better collaboration between specialists leading to a clinical and holistic synthesis.
文摘The X-linked adrenoleukodystrophy (ALD) is a severe neurodegenerative disorder due to mutations in the ABCD1 gene. Objective: To report a case of a 19-year-old man with adrenal insufficiency due to adrenoleukodystrophy. Method: Case report and literature review. Result: A previously healthy 19-year-old male patient was admitted to the emergency room with nausea and vomiting for 5 days, who progressed to abdominal pain, severe asthenia, and fever (38.5°C). He referred progressive darkening of the skin, oral mucosa, tongue and nail bed of the hands and feet, observed in the last 6 years. Emergency laboratory evaluation showed severe hyponatremia and hyperkalemia, which, together with decreased plasma cortisol, directed the investigation to causes of adrenal insufficiency. High ACTH (Adrenocorticotropic hormone) and very long chain fatty acid levels closed the diagnosis. Discussion: ALD is characterized by progressive demyelination in the central and peripheral nervous system and adrenal insufficiency consequence to the accumulation of very long chain fatty acids (VLCFA) in the adrenal. The overall incidence of ALD is 1:17,000. Adrenal insufficiency may be the first symptom of ALD in boys and adults. The diagnosis is based on the measurement of VLCFA plasma levels. Allogeneic bone marrow transplantation is the only treatment that provides a permanent cure when the procedure is performed at an early stage of brain demyelination, i.e. when patients are asymptomatic, although brain magnetic resonance imaging (MRI) is abnormal. Treatment of Addison’s disease is obligatory, but does not change the course of neurological symptoms.