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1.
BMJ Case Rep ; 16(1)2023 Jan 27.
Artigo em Inglês | MEDLINE | ID: mdl-36707098

RESUMO

We present a case of bilateral interstitial keratitis leading to perforation in a woman with hidradenitis suppurativa (HS). A woman in her mid-20s with a history of HS and Grave's disease was referred to the corneal service with loss of vision and pain in both eyes since childhood. She was found to have circumferential thinning and steepening affecting her peripheral cornea bilaterally. Corrected distance visual acuity with spectacles was in the right eye 6/7.5, and in the left 6/30, with local thinnest area of 209 and 217 µm in the right and left eyes, respectively. She experienced recurring episodes of redness and irritation, and perforation occurred. The corneal perforation was managed with cyanoacrylate glueing, followed by a local conjunctival flap. Systemic immunosuppression with mycophenolate mofetil and adalimumab was commenced, with improvement after 18 months of treatment. Dermatologists and ophthalmologists should be aware of this association given its potential severity.


Assuntos
Perfuração da Córnea , Hidradenite Supurativa , Ceratite , Feminino , Humanos , Criança , Hidradenite Supurativa/complicações , Ceratite/complicações , Ceratite/cirurgia , Córnea/cirurgia , Perfuração da Córnea/etiologia , Perfuração da Córnea/terapia , Adalimumab
2.
Ocul Immunol Inflamm ; 31(1): 185-187, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-34637677

RESUMO

PURPOSE: Coronavirus Disease 2019 (COVID-19) pneumonia may predispose to thromboembolic disease, including after the acute phase. We report on a unique case of central retinal vein occlusion (CRVO) occurring eight months after diagnosis of Coronavirus Disease 2019 (COVID-19) pneumonia in a likely case of post-COVID-19 syndrome. CASE REPORT: A 42-year-old man developed blurred vision in his right eye eight months after symptoms of pneumonia. He had no underlying medical conditions, but experienced exertional chest pain since diagnosis of COVID-19 was confirmed by detection of SARS-CoV-2 on nasopharyngeal swab and was also seeing cardiology for management of myocarditis. His best-corrected visual acuity on snellen chart testing was reduced to 6/18 in the affected right eye, and dilated fundal examination revealed a non-ischaemic CRVO. CONCLUSION: The thromboembolic complications of COVID-19 may extend to CRVO, which in this case presented months after onset of symptoms of pneumonia, in association with myocarditis.


Assuntos
COVID-19 , Miocardite , Oclusão da Veia Retiniana , Masculino , Humanos , Adulto , Oclusão da Veia Retiniana/etiologia , Oclusão da Veia Retiniana/complicações , COVID-19/complicações , COVID-19/diagnóstico , SARS-CoV-2 , Miocardite/complicações , Síndrome de COVID-19 Pós-Aguda
3.
Nephron ; 130(4): 293-301, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26202451

RESUMO

BACKGROUND: The prevalence of kidney disease (KD) due to inherited genetic conditions in Ireland is unknown. The aim of this study was to characterise an adult kidney disease population in Ireland and to identify familial clusters of kidney disease within the population. METHODS: This was a multicenter cross-sectional study of patients with kidney disease in the Republic of Ireland, from January 2014 to September 2014, recruiting from dialysis units and out-patient renal departments. A survey was performed by collecting data on etiology of kidney disease and whether a family history of kidney disease exists. Medical records were cross-referenced to confirm the etiology of kidney disease. RESULTS: A total of 1,840 patients were recruited with a mean age of 55.9 years (range 17-94.5) and a male predominance (n = 1,095; 59.5%). A positive family history was reported by 629 participants (34.2%). Excluding polycystic kidney disease (n = 134, 7.3%), a positive family history was reported by 495 participants (26.9%). Kidney disease due to an unknown etiology was the commonest etiology in the non-polycystic kidney disease group with a positive family history (10.6%, n = 67). Kidney diseases that are not classically associated with familial inheritance including tubulo-interstitial kidney disease, congenital abnormalities of the kidney and urinary tract and glomerulonephritis demonstrated familial clustering. CONCLUSION: In an Irish non-polycystic kidney disease population, 26.9% reports a positive family history. The commonest etiology of kidney disease in the positive family history cohort, excluding autosomal dominant polycystic kidney disease, was kidney disease due to unknown etiology. Examining families with kidney disease provides an opportunity to better understand disease pathogenesis and potentially identify genetic predispositions to kidney disease.


Assuntos
Nefropatias/epidemiologia , Nefropatias/genética , Adolescente , Adulto , Fatores Etários , Idade de Início , Idoso , Idoso de 80 Anos ou mais , Estudos Transversais , Família , Feminino , Predisposição Genética para Doença , Inquéritos Epidemiológicos , Humanos , Irlanda/epidemiologia , Masculino , Prontuários Médicos , Pessoa de Meia-Idade , Doenças Renais Policísticas/epidemiologia , Doenças Renais Policísticas/genética , Prevalência , Diálise Renal/estatística & dados numéricos , Fatores Sexuais , Adulto Jovem
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