RESUMO
BACKGROUND: Hemolytic uremic syndrome (HUS) is a systemic thrombotic microangiopathy characterized by hemolytic anemia, thrombocytopenia, and variable kidney involvement. Extrarenal thrombotic microangiopathy occurs in central nervous system (CNS), colon, and other organ systems, but ocular involvement is rarely recognized. This study aimed to analyze frequency and severity of ocular involvement in STEC-HUS, and the relationship between ocular involvement and disease severity, with emphasis on CNS, kidney, and colonic disease. METHODS: Prospective, longitudinal, observational study. INCLUSION CRITERIA: STEC-HUS patients September 2014-January 2019. Funduscopic examination (FE) was performed within 48 h of admission. We evaluated severity of CNS disease, kidney involvement, and presence of hemorrhagic colitis (HC). RESULTS: Ninety-nine patients were included (female 52), mean age 39.4 months (DE: 29.8; range 9-132). Thirteen patients (13.1%) had abnormal FE, 10 showing variable degrees of hemorrhagic exudates and 2 with typical Purtscher-like retinopathy. Other findings included tortuous vascularity, cotton wool spots, and transient retinal edema. CNS involvement was present in 16/99 patients, severe in 12 (75%). Abnormal FE occurred in 5/12 (31%) patients with severe CNS involvement vs. 8/87 (9.2%) with mild, moderate, or no CNS disease (p = 0.0191). Abnormal FE was present in 2/33 (6%) patients without dialysis vs. 11/66 (16.6%) requiring dialysis (p = 0.20). Finally, there were FE abnormalities in 6/20 patients with HC vs. 7/79 without HC (p = 0.012). CONCLUSIONS: FE abnormalities were present in 13% of HUS patients. Abnormal FE significantly associated with more severe disease, including severe CNS involvement and HC. We suggest FE should be performed in severe HUS, especially in cases with severe CNS disease. A higher resolution version of the Graphical abstract is available as Supplementary information.
Assuntos
Doenças do Sistema Nervoso Central , Síndrome Hemolítico-Urêmica , Escherichia coli Shiga Toxigênica , Microangiopatias Trombóticas , Pré-Escolar , Feminino , Síndrome Hemolítico-Urêmica/complicações , Síndrome Hemolítico-Urêmica/terapia , Humanos , Estudos Prospectivos , Diálise Renal , Microangiopatias Trombóticas/complicaçõesRESUMO
Ocular involvement of lichenoid dermatoses, such as lichen planus (LP), lichen planus pigmentosus (LPP), and lichen planopilaris (LPL), although uncommon, is associated with skin manifestations. Isolated ocular involvement is very rare. When lesions are confined to the skin, the dermatologist inquires and evaluates for oral and genital symptoms and lesions, respectively; hence, eye manifestations are commonly neglected by the non-ophthalmologist. Ocular involvement in LP, LPP, and LPL may result in significant morbidity. An ophthalmic interrogatory and a gross ophthalmic evaluation performed by the dermatologist may unravel ocular signs and symptoms that require evaluation by an eye specialist. Ocular surface inflammation and scarring, when untreated, results in serious complications such as corneal perforation and permanent vision loss. This review aims to present an up-to-date overview for the dermatologist of the ocular involvement and complications of LP, LPP, and LPL, and when to refer to the ophthalmologist to prevent blinding complications.
Assuntos
Hiperpigmentação , Líquen Plano , Face , Humanos , Líquen Plano/complicações , Líquen Plano/diagnóstico , Líquen Plano/patologia , Pele/patologiaRESUMO
The following case is of a 59-year-old man, undergoing no medication, with no pathological history or others risk factors, who presented dizziness, fever and asthenia twenty days before admission. The patient was admitted for investigation when the asthenia intensified, followed by seizures. On admission, blood count, biochemical tests and chest computed tomography were normal, a serological test for anti-HIV proved negative, while the magnetic resonance of the brain showed signs suggestive of meningoencephalitis. Cerebrospinal fluid (CSF) analysis suggested bacterial meningitis due to increased leukocytes with a predominance of polymorphonuclear cells, reduced glucose and increased proteins as well as positive Gram cocci in pairs by Gram and negative fungi by India ink test. Treatment with ceftriaxone was started. Since there was no significant improvement, CSF analysis was repeated on the seventh day of treatment. Intracranial pressure was measured by manometry (29 mmHg) and CSF analysis showed the presence of encapsulated yeasts similar to Cryptococcus neoformans by the India ink test. The treatment was modified to liposomal amphotericin B and flucytosine; the intracranial hypertension was controlled by repeated CSF punctures. After fourteen days of antifungal treatment, the patient presented visual turbidity and bilateral papillar edema, so corticosteroid therapy was prescribed. The evolution was favorable, with progressive resolution of symptoms, improvement of CSF parameters and visual acuity. The patient was discharged eight weeks after admission, with outpatient guidance. Corticosteroid therapy associated with antifungal therapy proved to be beneficial in this case, since following the introduction of corticosteroids there was progressive visual improvement.
Assuntos
Humanos , Acuidade Visual , Neurite Óptica , Meningites Bacterianas , Corticosteroides , Cryptococcus gattiiRESUMO
Ocular involvement is present in 50-60% of granulomatosis with polyangiitis (GPA) patients and can affect any part of the ocular globe. The present study describes ophthalmologic manifestations, association with systemic symptoms, disease activity and damage in GPA. A cross-sectional study was conducted including patients with GPA who underwent rheumatologic and ophthalmologic evaluation. Demographics, comorbidities, ophthalmologic symptoms, serologic markers, radiographic studies, disease activity and damage were assessed. Descriptive statistics, correlation, univariable logistic regression analyses, Student's t, Mann-Whitney U, Chi-square and Fisher's exact tests were performed. Fifty patients were included, 60% female, the median age was 56 years, disease duration 72.5 months. Nineteen (38%) patients had ocular manifestations at GPA diagnosis, scleritis being the most frequent; 27 (54%) patients presented ocular involvement during follow-up, repeated scleritis and dacryocystitis being the most common manifestations. Concomitant ophthalmic and sinonasal involvement was present in 12 (24%). Ocular and ENT damage occurred in 58% and 70%, respectively. Epiphora and blurred vision were the most frequent symptoms; scleromalacia and conjunctival hyperemia (27%) the most frequent clinical abnormalities. Ocular involvement at diagnosis was associated with concomitant ocular and sinonasal involvement at follow-up (OR 4.72, 95% CI 1.17-19.01, p = 0.01). Ocular involvement at follow-up was associated with age at GPA diagnosis (OR 0.94, 95% CI 0.90-0.99, p = 0.03), VDI (OR 1.29, 95% CI 1.03-1.61, p = 0.02), and ENT damage (OR 5.27, 95% CI 1.37-20.13, p = 0.01). In GPA, ocular involvement is frequent, therefore, non-ophthalmologist clinicians should be aware of this manifestation to reduce the risk of visual morbidity and organ damage.
Assuntos
Dacriocistite/fisiopatologia , Granulomatose com Poliangiite/fisiopatologia , Doenças Nasais/fisiopatologia , Doenças dos Seios Paranasais/fisiopatologia , Esclerite/fisiopatologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Doenças da Túnica Conjuntiva/etiologia , Doenças da Túnica Conjuntiva/fisiopatologia , Estudos Transversais , Dacriocistite/etiologia , Oftalmopatias/etiologia , Oftalmopatias/fisiopatologia , Feminino , Granulomatose com Poliangiite/complicações , Humanos , Hiperemia/etiologia , Hiperemia/fisiopatologia , Doenças do Aparelho Lacrimal/etiologia , Doenças do Aparelho Lacrimal/fisiopatologia , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Doenças Nasais/etiologia , Doenças dos Seios Paranasais/etiologia , Esclerite/etiologia , Transtornos da Visão/etiologia , Transtornos da Visão/fisiopatologia , Adulto JovemRESUMO
BACKGROUND: Amelogenesis imperfecta (AI) is a group of genetic diseases characterised by tooth enamel defects. AI was recently described in patients with familial hypercalciuria and hypomagnesaemia with nephrocalcinosis (FHHNC) caused by CLDN16 mutations. In the kidney, claudin-16 interacts with claudin-19 to control the paracellular passage of calcium and magnesium. FHHNC can be linked to mutations in both genes. Claudin-16 was shown to be expressed during amelogenesis; however, no data are available on claudin-19. Moreover, the enamel phenotype of patients with CLDN19 mutations has never been described. In this study, we describe the clinical and genetic features of nine patients with FHHNC carrying CLDN19 mutations and the claudin-19 expression profile in rat ameloblasts. METHODS: Six FHHNC Brazilian patients were subjected to mutational analysis. Three additional French patients were recruited for orodental characterisation. The expression profile of claudin-19 was evaluated by RT-qPCR and immunofluorescence using enamel epithelium from rat incisors. RESULTS: All patients presented AI at different degrees of severity. Two new likely pathogenic variations in CLDN19 were found: p.Arg200Gln and p.Leu90Arg. RT-qPCR revealed low Cldn19 expression in ameloblasts. Confocal analysis indicated that claudin-19 was immunolocalised at the distal poles of secretory and maturing ameloblasts. CONCLUSIONS: For the first time, it was demonstrated that AI is associated with FHHNC in patients carrying CLDN19 mutations. The data suggest claudin-19 as an additional determinant in enamel formation. Indeed, the coexistence of hypoplastic and hypomineralised AI in the patients was consistent with claudin-19 expression in both secretory and maturation stages. Additional indirect systemic effects cannot be excluded.
RESUMO
A case report of a 31 year-old woman from Paraíba State (North-Eastern Brazil) that presented severe involvement of ocular globes, ears and meninges. Diagnosis was established after enucleation of her left eye, when adult worms were seen in the midst of a granulomatous inflammatory process. Her response to the initial treatment with levamisole and cambendazole was good, but there was a relapse after the fifth month of treatment even with maintenance doses of both medications. She later received ivermectin and albendazol and responded well.
Paciente do sexo feminino, com 31 anos, procedente da Paraíba, apresentava envolvimento severo de ambos os globos oculares, com perda da visão à esquerda, comprometimento da audição e das meninges. Após enucleação do olho esquerdo fragmento de helminto identificado como Lagochilascaris minor foi observado em processo inflamatório granulomatoso. Inicialmente a paciente foi tratada com levamisol e cambendazol, com bom resultado. Verificou-se, todavia, piora do quadro após cinco meses, com eliminação de larvas do ascarídeo em lesão presente na órbita esquerda, embora a medicação fosse mantida com administração periódica. Houve boa resposta terapêutica, com regressão do quadro, após substituição dos anti-helmínticos anteriores pela associação ivermectina e albendazol.