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1.
Cureus ; 16(1): e52372, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38361732

RESUMO

Autoimmune polyglandular syndrome II (APS-II), also known as Schmidt syndrome, is a rare endocrine disorder characterized by endocrine and non-endocrine illnesses. Addison's disease and at least one additional autoimmune condition, such as autoimmune thyroid disease or type 1 diabetes mellitus (T1DM), are features of APS-II. It can result from genetic and non-genetic factors. We present a case of a 60-year-old female patient with a history of T1DM and a recent diagnosis of Hashimoto's thyroiditis who was admitted to the nephrology department for hyponatremia. Investigations showed the presence of adrenal insufficiency (AI), so she was diagnosed with APS-II and had the full triad of this syndrome. Thus, it is important to think about the diagnosis of AI or other autoimmune conditions in a patient who already has one or more autoimmune diseases.

2.
Cureus ; 16(1): e52536, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38371079

RESUMO

Granulomatosis with polyangiitis (GPA), formerly known as Wegener's granulomatosis (WG), is a condition marked by necrotizing vasculitis of the small-medium vessels that results in necrotizing granulomatous inflammation. Splenic involvement in GPA is a potentially life-threatening consequence of connective tissue disease and is rarely described as the main presenting feature. We present a case of a patient with perinuclear anti-neutrophil cytoplasmic antibodies (p-ANCA) who experienced spontaneous splenic rupture. A CT scan of the abdomen, an ANCA test, and a splenic biopsy were employed to identify ANCA-associated vasculitis (AAV) splenic rupture. Our patient's splenic rupture could be attributed to GPA. Nonetheless, since it may alter patient follow-up and therapy, a patient with spontaneous splenic rupture without an obvious explanation should be promptly evaluated for connective-tissue disease. This report highlights the intricacy and unpredictability of the clinical symptoms linked to AAV, as well as the possibility of misinterpreting them.

3.
Clin Med Res ; 19(2): 90-93, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-33985978

RESUMO

McArdle disease, also known as glycogen storage disease type V, is an autosomal recessive disease due to the absence of myophosphorylase activity, leading to the complete disruption of glycogen breakdown in muscles. We present a rare case of a Caucasian male, aged 26 years, who developed rhabdomyolysis-induced acute renal failure and uremic encephalopathy. Neurological examination and histopathological studies supported the diagnosis of McArdle disease. The severity of his symptoms necessitated urgent hemodialysis, upon which the patient reported improvement in status. Acute renal failure in McArdle disease usually resolves with supportive treatment and maintenance of regular physical activity. Nevertheless, in more severe cases, intensive care with urgent hemodialysis may be needed. A multidisciplinary approach is necessary for the adequate management of similar cases.


Assuntos
Injúria Renal Aguda , Doença de Depósito de Glicogênio Tipo V , Rabdomiólise , Injúria Renal Aguda/diagnóstico , Injúria Renal Aguda/etiologia , Injúria Renal Aguda/terapia , Doença de Depósito de Glicogênio Tipo V/complicações , Doença de Depósito de Glicogênio Tipo V/diagnóstico , Doença de Depósito de Glicogênio Tipo V/terapia , Humanos , Masculino , Diálise Renal , Rabdomiólise/diagnóstico , Rabdomiólise/etiologia , Rabdomiólise/terapia
4.
Clin Med Res ; 17(3-4): 102-104, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31308024

RESUMO

Renal involvement in patients with inflammatory myopathies, like dermatomyositis, is rare. We present the case of a woman, aged 66 years, who arrived at the hospital with acute renal failure. She had a diffuse erythematous rash, severe muscle weakness and decreased motor capacity. Inflammatory features of the skin/muscle biopsy along with the dramatic improvement in symptomatology upon the intake of steroids pointed towards dermatomyositis. Recognition of this pattern of events, adopting a multidisciplinary approach, early diagnosis and steroid treatment are necessary for better patient outcomes.


Assuntos
Injúria Renal Aguda/etiologia , Dermatomiosite/complicações , Injúria Renal Aguda/diagnóstico , Injúria Renal Aguda/tratamento farmacológico , Idoso , Biópsia , Dermatomiosite/diagnóstico , Dermatomiosite/tratamento farmacológico , Feminino , Glucocorticoides/uso terapêutico , Humanos , Pele/patologia
5.
Rev Assoc Med Bras (1992) ; 64(7): 575-576, 2018 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-30365655

RESUMO

Hypercalcemia associated with silicone-induced granuloma is a rare disease. Diagnosis can be tricky as it is established after ruling out other hypercalcemia-causing entities. In addition, management is customized depending on the patient's wishes and possible solutions. We present a male bodybuilder, in his thirties, with multiple silicone injections in his upper extremities, who developed hypercalcemia and urinary symptoms. Advanced laboratory tests ruled out various causes of hypercalcemia and CT imaging revealed nephrocalcinosis. A biopsy of the upper arm showed granulomatous tissue and inflammation. The patient necessitated two sessions of dialysis and corticosteroids were given to relieve symptoms and reverse laboratory abnormalities. Silicone-induced hypercalcemia should be on high alert because of the increasing trend of body contour enhancements with injections, implants and fillers. Treatment should be optimized depending on the patient's needs and condition.


Assuntos
Granuloma de Corpo Estranho/complicações , Hipercalcemia/etiologia , Silicones/efeitos adversos , Adulto , Biópsia , Granuloma de Corpo Estranho/patologia , Humanos , Hipercalcemia/patologia , Injeções Intradérmicas , Masculino , Levantamento de Peso
6.
Rev. Assoc. Med. Bras. (1992) ; 64(7): 575-576, July 2018. graf
Artigo em Inglês | LILACS | ID: biblio-976835

RESUMO

SUMMARY Hypercalcemia associated with silicone-induced granuloma is a rare disease. Diagnosis can be tricky as it is established after ruling out other hypercalcemia-causing entities. In addition, management is customized depending on the patient's wishes and possible solutions. We present a male bodybuilder, in his thirties, with multiple silicone injections in his upper extremities, who developed hypercalcemia and urinary symptoms. Advanced laboratory tests ruled out various causes of hypercalcemia and CT imaging revealed nephrocalcinosis. A biopsy of the upper arm showed granulomatous tissue and inflammation. The patient necessitated two sessions of dialysis and corticosteroids were given to relieve symptoms and reverse laboratory abnormalities. Silicone-induced hypercalcemia should be on high alert because of the increasing trend of body contour enhancements with injections, implants and fillers. Treatment should be optimized depending on the patient's needs and condition.


RESUMO A hipercalcemia associada ao granuloma induzido por silicone é uma doença rara. O diagnóstico pode ser complicado, pois é estabelecido depois de eliminadas outras entidades que causam hipercalcemia. Além disso, o gerenciamento é personalizado, dependendo dos desejos do paciente e das possíveis soluções. Apresentamos um fisiculturista masculino, com trinta e poucos anos, múltiplas injeções de silicone nas extremidades superiores, que desenvolveu hipercalcemia e sintomas urinários. Testes laboratoriais avançados descartaram várias causas de hipercalcemia e a imagem da TC revelou nefrocalcinoses. Uma biópsia da parte superior mostrou tecido granulomatoso e inflamação. O paciente exigiu duas sessões de diálise e foram administrados corticosteroides para aliviar os sintomas e reverter as anormalidades laboratoriais. A hipercalcemia induzida por silicone deve estar em alerta elevado devido à crescente tendência de aprimoramentos do contorno corporal com injeções, implantes e enchimentos. O tratamento deve ser otimizado de acordo com as necessidades e condições do paciente.


Assuntos
Humanos , Masculino , Adulto , Silicones/efeitos adversos , Granuloma de Corpo Estranho/complicações , Hipercalcemia/etiologia , Levantamento de Peso , Biópsia , Injeções Intradérmicas , Granuloma de Corpo Estranho/patologia , Hipercalcemia/patologia
7.
N Z Med J ; 131(1473): 78-81, 2018 04 13.
Artigo em Inglês | MEDLINE | ID: mdl-29649200

RESUMO

Granulomatous hypercalcemia due to silicone injections is a rare disease with scarce literature. We present a case of a 35-year-old Caucasian male bodybuilder with multiple silicone injections in his upper extremities who developed hypercalcemia and urinary symptoms. He necessitated two sessions of dialysis. A biopsy of the upper arm showed granulomatous tissue. Corticosteroids were administered to relieve symptoms and reverse laboratory abnormalities. Silicone-induced hypercalcemia should be on high alert because of the increasing trend of body contour enhancements with injections, implants and fillers.


Assuntos
Técnicas Cosméticas/efeitos adversos , Hipercalcemia/induzido quimicamente , Músculo Esquelético , Silicones/efeitos adversos , Extremidade Superior/patologia , Adulto , Humanos , Injeções/efeitos adversos , Masculino , Músculo Esquelético/efeitos dos fármacos , Músculo Esquelético/patologia , Silicones/administração & dosagem , Silicones/uso terapêutico , Levantamento de Peso
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