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Autosomal dominant polycystic kidney disease (ADPKD) is a common inherited condition characterized by the growth of multiple bilateral cysts in the kidneys. We describe the case of a 35-year-old male with combined ADPKD and type 1 diabetes mellitus with a strong family history of both. At the age of 32, he developed end-stage kidney disease for which he underwent preemptive simultaneous pancreatic and kidney transplant, which in turn led to multiple perioperative complications. Evaluation of familial clustering of genetic disease is critical in genetic epidemiology and precision medicine as it enables estimation of lifetime disease risk and early assessment as well as detection of the disease among one's siblings.
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The incidence of end-stage kidney disease (ESKD) has been increasing over the past few years as a direct result of the growing percentages of individuals with metabolic syndrome. From 2001 to 2015 there were 2805 individuals diagnosed with ESKD in Oman with a growing number of patients undergoing renal transplant as the gold standard management of renal replacement therapy. Mycophenolate mofetil (MMF) is one of the most frequently used medications as a part of immunosuppressive medications in renal transplant specifically and solid organ transplant generally. We are reporting a case of MMF-induced colitis in a young female patient that underwent a living-related kidney transplant. She presented with a three-month history of watery non-bloody and afebrile diarrhea. Investigations confirmed the diagnosis of MMF-induced colitis. Histopathological examination of colonic biopsies obtained during the colonoscopy procedure showed mildly increased crypt apoptosis, mild architectural disarray, and focal crypt attenuation; features consistent with MMF-induced colitis. The patient was treated by stopping the causative agent and replacing it with another immunosuppressive medication, which led to complete resolution of the symptoms on follow-up appointments. In this case report, we highlighted the underlying mechanism, pathogenesis, and clinical features of MMF-induced colitis.
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Although the number of patients reaching end-stage kidney disease without a biopsy- proven diagnosis is increasing, kidney biopsies play a key role in diagnosing kidney disease. We analyzed prospective data from patients with kidney disease who underwent percutaneous native kidney biopsies from January 2006 to December 2017. Demographic data, clinical presentations, and the laboratory and radiological findings at the time of biopsy were analyzed. Of 530 patients, 42.8% were male. The mean age was 33.9 (32.8-34.9.2) years; 66.3% were aged 25-64 years. Edema was the main clinical presentation (61.9%), with clinical urine changes seen in 66.7%. Most (89.6%) were nondiabetic; 46.8% had high blood pressure or were on antihypertensive therapy. Most patients (77.5%) were in Stages I, II, and III, and 12.3% underwent hemodialysis at the time of admission. Most (54.4%) were obese. Low hemoglobin (31.8%), high triglycerides (30%), high total cholesterol (58.2%), low serum albumin (73.9%), nephrotic proteinuria (61.8.6%), and microscopic hematuria (79.8%) were the main laboratory findings. The immunological investigations showed that antinuclear antibodies, positive anti-double-stranded DNA (anti-dsDNA), and extractable nuclear antigens were positive in 29.6%, 20.7%, and 19.7%, respectively. Perinuclear antineutrophil cytoplasmic antibodies (ANCA) were positive in 9.6% and cytoplasmic ANCA were positive in 5.4%, whereas immunoglobulin A was detected in 4.6%. More than one- third of the patients had reached advanced chronic kidney disease (CKD) Stages IIIB, IV, and V. This indicates the need to increase awareness about CKD, greater utilization of kidney biopsies, and earlier investigations to enable accurate diagnoses, and proper and timely management.
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Enfermedades Renales , Fallo Renal Crónico , Humanos , Masculino , Adulto , Femenino , Riñón/patología , Anticuerpos Anticitoplasma de Neutrófilos , Estudios Prospectivos , Enfermedades Renales/diagnóstico , Enfermedades Renales/terapia , Enfermedades Renales/patología , Biopsia , Estudios RetrospectivosRESUMEN
Graft versus host disease (GVHD) occurs quite often after hematopoietic cell transplantation. However, it is a rare complication after solid organ transplantation and consists of a reaction of donor-derived immune cells directed against host tissues, which is mostly seen in liver, small intestine, and pancreas transplantation. We are presenting a 54-year-old man with a long-standing history of hypertension, hypertensive nephrosclerosis, and stage V terminal chronic kidney disease, who was on a regular hemodialysis thrice weekly. He had a living kidney transplantation done abroad. On returning, he had a normal kidney function with no obvious complications. Three years later, he presented with jaundice, anorexia, diarrhea, and abdominal pain. Laboratory evaluation showed marked elevated liver enzymes, and severe pancytopenia with evidence of hepatosplenomegaly. Liver biopsy was compatible with graft-versus-host-disease and toxic hepatitis. The patient was not cooperative with the management and he traveled abroad for the 2nd opinion. Based on the clinical presentations, laboratory, radiological, and pathological findings, transplant-associated GVHD (ta-GVHD) was confirmed. Unfortunately, this patient was complicated by severe sepsis, and confounded by a lack of cooperation with the management plan, which resulted in his demise. In the presence of a highly immunocompromised state, patients presenting with transaminitis/hyperbilirubinemia, and when drug-induced liver injury is excluded, the diagnosis of ta-GVHD needs to be highly considered.
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Enfermedad Injerto contra Huésped , Trasplante de Riñón , Trasplante de Órganos , Masculino , Humanos , Persona de Mediana Edad , Enfermedad Injerto contra Huésped/diagnóstico , Enfermedad Injerto contra Huésped/etiología , Enfermedad Injerto contra Huésped/patología , Trasplante de Órganos/efectos adversos , Trasplante de Riñón/efectos adversos , Donantes de Tejidos , Hígado/patologíaRESUMEN
Diabetes mellitus (DM) is a common disease in Oman as in rest of Gulf Cooperation Council where metabolic syndrome is of high prevalence. DM is a foremost risk factor for urinary tract infections (UTIs). It is also linked to more complicated infections such as emphysematous pyelonephritis (EPN), emphysematous pyelitis (EP), renal/perirenal abscess, emphysematous cystitis, xanthogranulomatous pyelonephritis, and renal papillary necrosis. The diagnosis of these cases is frequently delayed because the clinical manifestations are generic and not different from the typical triad of upper UTI, which include fever, flank pain, and pyuria. A middle-aged female with DM and chronic kidney disease stage IV was admitted with recurrent UTI with extended-spectrum beta-lactamase-producing Escherichia coli. At presentation, she was afebrile, clinically stable, had no flank pain and there was no leukocytosis. Laboratory test for C- reactive protein done twice and was only mildly elevated at 7 and 11 mg/dL. A computed tomography scan of kidney-ureter-bladder (CT-KUB) was recommended and reported as "no KUB stone but small atrophic left kidney with dilatation of the pelvicalycial system and ureter and the presence of air in the collecting system suggestive of EP." Thus, commonly associated with DM, especially in females, debilitated immune-deficient individuals, and patients harboring obstructed urinary system with infective nidus. Air in the kidney is not always due to EPN. UTI with a gas-producing organism can ascend to the kidney in the presence of vesicoureteral reflux.
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Complicaciones de la Diabetes/mortalidad , Enfisema/microbiología , Infecciones por Escherichia coli/microbiología , Pielitis/microbiología , Infecciones Urinarias/microbiología , Reflujo Vesicoureteral/complicaciones , Enfermedades Asintomáticas , Complicaciones de la Diabetes/diagnóstico , Enfisema/diagnóstico por imagen , Infecciones por Escherichia coli/complicaciones , Infecciones por Escherichia coli/diagnóstico , Femenino , Humanos , Persona de Mediana Edad , Pielitis/diagnóstico por imagen , Recurrencia , Factores de Riesgo , Infecciones Urinarias/complicaciones , Infecciones Urinarias/diagnóstico , Reflujo Vesicoureteral/diagnósticoRESUMEN
Diabetic kidney disease (DKD), one of the most frequent microvascular complications of diabetes mellitus (DM), is the leading cause of end-stage kidney disease worldwide. We reviewed all kidney biopsies performed at the Royal Hospital, Muscat, Oman, between January 2005 and December 2016, and data of 51 DM patients were analyzed. Of the 51 patients, 54.9% were male and 45.1% were female. The mean age was 50.8 (47.1-55.2) years; 86% were between 25 and 64 years old. Edema was the main clinical presentation (70.6%) with clinical urine changes in 84.3%. Diabetic retinopathy was present in 62.2% in ophthalmological examination of 44 patients. Majority (67.5%) of patients were in advanced chronic kidney disease Stages III, IV, and V. About one-quarter underwent hemodialysis at the time of admission. Majority (76.9%) were obese and hypertensive (78.4%). Low hemoglobin (51%), high triglyceride (35.7%), high total cholesterol (56.8%), low serum albumin (78.4%), nephrotic-range proteinuria (75.6%), and microscopic hematuria (77.1%) were the main laboratory findings. In addition, immunological investigations were examined and immunoglobulin A was the most common findings (35.7%) of serological investigations. About 24.4% had positive antinuclear antibody, 20.8% had positive anti-dsDNA, and 23.3% had positive extractable nuclear antigens. Also, p-antineutrophil cytoplasmic antibody (p-ANCA) was positive in 30% and c-ANCA was positive in 9.7%. This study represents the findings of the whole country for more than 10 years. It showed that only a small percentage of patients with DM undergo kidney biopsy. These patients have many clinical and laboratory abnormalities including those of specific immuno-logical investigations. Progression of DM nephropathy seems to be further aggravated by many coexisting risk factors of dyslipidemia and/or obesity. The prevalence of non-DKD is remarkably frequent in diabetics in whom nephrologists should consider kidney biopsy as an appropriate measure to enable better management.
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Nefropatías Diabéticas/patología , Riñón/patología , Adulto , Biomarcadores/sangre , Biopsia , Comorbilidad , Nefropatías Diabéticas/sangre , Nefropatías Diabéticas/epidemiología , Nefropatías Diabéticas/inmunología , Femenino , Humanos , Riñón/inmunología , Masculino , Persona de Mediana Edad , Omán/epidemiología , Prevalencia , Pronóstico , Diálisis Renal , Estudios Retrospectivos , Factores de RiesgoRESUMEN
Background/Aim: Recently, endoscopic ultrasound-guided gallbladder drainage (EUS-GBD) has emerged using a self-expandable metallic stent (SEMS). The aim of the study was to evaluate the long-term outcomes of this procedure. In addition, the efficacy and safety of EUS-GBD with SEMS were assessed. Patients and Methods: Thirteen consecutive patients who underwent EUS-GBD for acute cholecystitis between February 2014 and September 2016 were included in this retrospective study. EUS-GBD was performed under the guidance of EUS and fluoroscopy, through puncturing the gallbladder with a needle, inserting a guidewire, dilating the puncture hole, and placing a SEMS. Results: The rates of technical success, functional success, and adverse events were 100%, 92.3% and 7.7%, respectively. The median procedure time was 26.9 min (range 19-42 min). The median follow-up time was 240 days (range 14-945 days) and during this follow-up period recurrence of cholecystitis was observed in one patient (7.7%). Conclusion: EUS-GBD with a SEMS is a possible alternative treatment for acute cholecystitis in high surgical risk patients. Long-term outcomes after EUS-GBD were promising.
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Colecistitis Aguda/cirugía , Drenaje/instrumentación , Endosonografía/instrumentación , Anciano , Anciano de 80 o más Años , Femenino , Fluoroscopía , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Recurrencia , Estudios Retrospectivos , Stents Metálicos Autoexpandibles , Resultado del TratamientoRESUMEN
AIMS: To quantitatively evaluate the urinary symptoms at different stages of idiopathic Parkinson's disease (IPD) severity and its relation to urodynamic parameters. METHODS: This study was conducted on 49 patients with probable IPD to quantitatively evaluate their urinary symptoms using International Prostate Symptom Score and urodynamic tests. Four, 10, 29, 5, and 1 cases were classified as stages 1-5, respectively, according to Hoehn and Yahr staging of IPD severity. RESULTS: The most prevailing urinary symptom in IPD was nocturia (77.5%) followed by urgency (36.7%) and frequency (32.6%). Urodynamic tests revealed neurogenic detrusor overactivity in 33 patients (67.3%), detrusor underactivity in 6 patients (12.2%), and 10 (20.4%) patients with normal detrusor function. Irritative symptom index score correlated significantly with disease severity as well as the volume at initial desire to void and maximum bladder capacity meanwhile obstructive symptom index score had no significant correlation with any of the urodynamic parameters or disease severity. Total IPSS symptoms score significantly correlated with quality of life score. The mean of urodynamic parameters did not differ in IPD patients who did or did not receive anticholinergic or dopaminergic drugs. CONCLUSION: The irritative urinary symptoms manifested urodynamically as neurogenic detrusor overactivity are more common in IPD patients than obstructive symptoms. These irritative symptoms deteriorate progressively with the disease severity and significantly affect the quality of life of these patients. The International Prostate Symptom Score is a valuable tool in evaluating the urinary dysfunction in such patients.