RESUMO
We report the incidence, patient characteristic with clinical outcomes in patients with homozygous familial hypercholesterolemia (HoFH) in Saudi Arabia. This is a retrospective and prospective, single center study which included 37 patients 14 years and older enrolled and followed up between 2018-2021 for three years. 46% were females, 78% were offspring of consanguineous marriage. LDLR mutation was in 78% and LDL-C/LDLRAP in 3% of patients. Mean LDL-C at the first presentation was 14.2±3.7 mmol/L, average Dutch lipid score was 20.9±6.24. LDL apheresis was performed on 70% of patients. Most patients were on ezetimibe (92%), high-dose statins ( 84%) and PCSK9 inhibitors (32%). 48.6% had aortic stenosis, out of which 30% had severe aortic stenosis. Ten underwent aortic valve surgery (5 mechanical valve, 3 Ross procedure, 1 aortic valve repair, 1 bioprosthetic valve) and one had transcatheter aortic valve implantation (TAVI). Coronary artery bypass surgery (CABG) was performed on 32% and percutaneous intervention (PCI) on 11% of patients. HoFH patients have complex diseases with high morbidity and mortality, and benefit from a highly specialized multidisciplinary clinic to address their clinical needs. Although there are several therapeutic agents on the horizon, early diagnosis, and treatment of HoFH remain critical to optimize patient outcomes.
Assuntos
Estenose da Valva Aórtica , Hipercolesterolemia Familiar Homozigota , Hipercolesterolemia , Hiperlipoproteinemia Tipo II , Intervenção Coronária Percutânea , Feminino , Humanos , Masculino , Pró-Proteína Convertase 9/uso terapêutico , Estudos Retrospectivos , Estudos Prospectivos , Arábia Saudita/epidemiologia , LDL-Colesterol , Hiperlipoproteinemia Tipo II/epidemiologia , Hiperlipoproteinemia Tipo II/genética , Hiperlipoproteinemia Tipo II/terapia , Estenose da Valva Aórtica/cirurgia , Resultado do TratamentoAssuntos
Angiomiolipoma/diagnóstico por imagem , Neoplasias Renais/diagnóstico por imagem , Neoplasias Renais/secundário , Metástase Neoplásica/diagnóstico por imagem , Neoplasias da Glândula Tireoide/diagnóstico por imagem , Adulto , Biomarcadores Tumorais , Feminino , Humanos , Isótopos de Iodo , Estudos Longitudinais , Neoplasias da Glândula Tireoide/tratamento farmacológico , Tireoidectomia , UltrassonografiaAssuntos
Doenças Ósseas Metabólicas/diagnóstico , Hiperparatireoidismo Secundário/diagnóstico , Deficiência de Vitamina D/diagnóstico , Adolescente , Densidade Óssea , Doenças Ósseas Metabólicas/sangue , Diagnóstico Diferencial , Erros de Diagnóstico , Feminino , Humanos , Hiperparatireoidismo Secundário/sangue , Osteíte Fibrosa Cística/diagnóstico , Neoplasias das Paratireoides/diagnóstico , Deficiência de Vitamina D/sangueRESUMO
OBJECTIVE: To present a case of untreated long-term idiopathic neurohypophysial diabetes insipidus (DI) with structural and functional renal abnormalities that regressed after treatment. METHODS: We describe the clinical course, biochemical data, and imaging findings in a man with idiopathic neurohypophysial DI in whom structural and functional abnormalities involving the urinary tract diminished after treatment. The patient underwent intravenous pyelography, retrograde pyelography, computed tomographic (CT) scanning of the kidneys and abdomen, iodohippurate renal scanning, and voiding cystourethrography. Ultrasonography of the kidneys at presentation and at 8-year followup and serial determinations of serum creatinine for a period of 9 years were also done. RESULTS: A 43-year-old man had polyuria for 30 years attributable to untreated idiopathic neurohypophysial DI. He presented with bilateral flank pain and a high serum creatinine level (156 mmol/L). Ultrasonography, intravenous pyelography, retrograde pyelography, and CT scan of the kidneys demonstrated severe bilateral hydronephrosis, notably dilated and tortuous ureters, a distended bladder, and atrophy of the left renal cortex. Retrograde pyelography and voiding cystourethrography confirmed the absence of mechanical obstruction or urinary reflux. A renal scan study showed bilaterally impaired function. Treatment with intranasally administered desmopressin and clean intermittent straight bladder catheterization resulted in resolution of flank pain, improvement of renal function, normalization of serum creatinine levels, and decreased hydronephrosis during 9 years of follow-up. CONCLUSION: This case provides information about renal abnormalities in the natural history of a long-term polyuric state, idiopathic neurohypophysial DI, before and after treatment. Reversibility of renal structural and functional abnormalities after treatment is documented. Recognition of renal abnormalities associated with untreated neurohypophysial DI is important for prevention and treatment of such complications.
Assuntos
Desamino Arginina Vasopressina/uso terapêutico , Diabetes Insípido Neurogênico/complicações , Diabetes Insípido Neurogênico/tratamento farmacológico , Hidronefrose/tratamento farmacológico , Hidronefrose/etiologia , Fármacos Renais/uso terapêutico , Adulto , Diabetes Insípido Neurogênico/patologia , Humanos , Hidronefrose/patologia , Córtex Renal/patologia , Masculino , Poliúria/tratamento farmacológico , Poliúria/etiologia , Poliúria/patologia , Fatores de Tempo , Ureter/patologia , Bexiga Urinária/patologiaAssuntos
Neoplasias do Córtex Suprarrenal/diagnóstico por imagem , Carcinoma Adrenocortical/diagnóstico por imagem , Fluordesoxiglucose F18 , Compostos Radiofarmacêuticos , Tomografia Computadorizada de Emissão , Neoplasias do Córtex Suprarrenal/diagnóstico , Carcinoma Adrenocortical/diagnóstico , Adulto , Síndrome de Cushing/diagnóstico por imagem , Humanos , MasculinoRESUMO
Airway invasion is a life-threatening complication of thyroid cancer. An important issue that deserves better attention is the differentiation between the clinical features of tracheal wall invasion versus those of an obstructive endotracheal lesion. We present information on the clinical course, diagnostic modalities utilized, management instituted, along with the prognosis, and follow-up data on a group of patients presenting with obstructive endotracheal lesions of thyroid cancer. Two thousand four hundred and eighty-nine thyroid cancer patients were seen at our institution from December 1975 to May 2000. Thirteen patients presented with symptoms of respiratory distress related to obstructive endotracheal lesions. At presentation, 11 patients underwent endoscopic examination. Imaging studies consisting of I123 whole body scan (WBS), computed tomography/magnetic resonance imaging (CT/MRI) of neck and chest, whole body positron emission tomography using 18-fluoro-2-deoxy-D-glucose ((FDG)PET) were done, as also was determination of the tumour markers, serum thyroglobulin (TG) and calcitonin. Patients were followed for one to 108 months after the initial presentation. Intraluminal tracheal obstruction was severe in eight patients; five had near-total-occlusion. Paralysis of the vocal folds was present in five. Evidence of metastatic disease was present in most patients. Dissociation between iodine uptake and TG synthesis was evident in five patients during follow-up. Four patients died of cancer. Of the nine living patients; cancer persisted in six, recurred in two patients, and remitted in one. This study has identified obstructive endotracheal lesion of thyroid cancer as a distinct entity apart from tracheal wall disease. These data provide evidence that intraluminal tracheal invasion of thyroid cancer is an ominous sign and a frequent cause of morbidity.