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Exacerbation of Congenital Hydronephrosis as the First Presentation of COVID-19 Infection in Children 儿童COVID-19感染的首发表现为先天性肾积水加重
Pub Date : 2022-05-04 DOI: 10.1155/2022/9562671
M. Mohkam, M. Jamee, Farshid Kompani, M. Khalili, Atena Seifi, L. Mohajerzadeh
Background Congenital hydronephrosis is one of the most common abnormalities of the upper urinary tract, which can be exacerbated by a variety of intrinsic or extrinsic triggers. The urinary tract system is one of the major organs complicated by COVID-19 infection. Case Presentations. Here, we report five patients with an established diagnosis of congenital hydronephrosis, who presented with acute abdominal pain and fever and an abrupt increase in the anteroposterior pelvic diameter (APD). Patients had a previous stable course and were under regular follow-up with serial ultrasonographic studies. They underwent surgery or supportive treatment due to the later exacerbation of hydronephrosis. Based on the clinical and imaging findings, no plausible etiologies for these exacerbation episodes, including infection, nephrolithiasis, or abdominal masses, could be postulated. The common aspect in all these patients was the evidence of a COVID-19 infection. Conclusions Infection with COVID-19 in children with antenatal hydronephrosis may exacerbate the degree of hydronephrosis and renal APD in ultrasonography, which itself may be mediated by the increase in inflammatory mediators.
背景先天性肾积水是上尿路最常见的异常之一,可因各种内在或外在诱因而加重。尿路系统是新冠肺炎感染的主要并发器官之一。例演示。在这里,我们报告了5例确诊为先天性肾积水的患者,他们表现为急性腹痛、发烧和骨盆前后径(APD)突然增加。患者既往病程稳定,并定期随访进行超声检查。由于肾积水后期加重,他们接受了手术或支持性治疗。根据临床和影像学发现,这些加重发作的病因不合理,包括感染、肾结石或腹部肿块。所有这些患者的共同点是有COVID-19感染的证据。结论产前肾积水患儿感染COVID-19可加重超声显示的肾积水及肾APD程度,其本身可能与炎症介质的增加有关。
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引用次数: 0
Beer Potomania: Why Initial Fluid Resuscitation May Be Harmful 啤酒狂躁:为什么最初的液体复苏可能有害
Pub Date : 2022-04-22 DOI: 10.1155/2022/8778304
Z. Yu, Lisa Fisher
Beer potomania is one of the less common causes of hyponatremia that we encounter. Patients usually have a recent history of binge drinking along with poor diet. The low solute content in alcoholic beverages limits daily urine output, and ingestion of extra fluid will cause dilutional hyponatremia as a result. Blindly providing intravenous fluid without an underlying cause of the hyponatremia can be detrimental, such as in patients with beer potomania. In our case, a patient presented to the emergency department due to poor oral intake from jaw pain and was found to be hyponatremic from alcohol intake. He initially received 2 liters of fluid, which caused overcorrection of his sodium, requiring more free water to lower his sodium as a result.
啤酒躁狂是我们遇到的低钠血症的不太常见的原因之一。患者通常有近期酗酒史和不良饮食习惯。酒精饮料中的低溶质含量限制了每天的尿量,摄入额外的液体会导致稀释性低钠血症。盲目地提供静脉输液而没有潜在的低钠血症的原因可能是有害的,例如对啤酒躁狂患者。在我们的病例中,一名患者因颌骨疼痛导致的口腔摄入不良而被送往急诊室,结果发现是酒精摄入导致的低钠血症。他最初接受了2升液体,这导致他的钠矫枉过正,结果需要更多的自由水来降低他的钠。
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引用次数: 2
Hypercalcemia, Acute Kidney Injury, and Metabolic Alkalosis 高钙血症、急性肾损伤和代谢性碱中毒
Pub Date : 2022-04-06 DOI: 10.1155/2022/1320259
Faten Aqeel, Jennifer Rose F Del Castillo, B. Jaar, Mohamad A. Hanouneh
Calcium regulation is tightly controlled in the body. Multiple causes of hypercalcemia have been studied including primary hyperparathyroidism, hypercalcemia of malignancy, and chronic granulomatous disorders. Among the less studied causes is calcium-alkali syndrome. Here, we discuss a case of hypercalcemia secondary to calcium-alkali syndrome, presenting with hypercalcemia, metabolic alkalosis, and acute kidney injury as a result of ingestion of a large amount of calcium supplements. Hypercalcemia can result in impaired collecting duct system sensitivity to antidiuretic hormone, afferent arteriole constriction, and activation of calcium sensor receptors in multiple tissues. The net effect is an increase in calcium reabsorption with a salt and water diuresis which leads to volume depletion, acute kidney injury, and metabolic alkalosis.
体内钙的调节受到严格控制。高钙血症的多种原因已被研究,包括原发性甲状旁腺功能亢进、恶性肿瘤高钙血症和慢性肉芽肿疾病。其中研究较少的原因是钙碱综合征。在这里,我们讨论一例继发于钙碱综合征的高钙血症,表现为高钙血症、代谢性碱中毒和急性肾损伤,这是摄入大量钙补充剂的结果。高钙血症可导致集管系统对抗利尿激素的敏感性受损,传入小动脉收缩,以及多种组织中钙传感器受体的激活。净效应是钙重吸收增加,盐和水利尿,导致容量减少,急性肾损伤和代谢性碱中毒。
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引用次数: 0
Multiple Focal Brown Tumors (Osteitis Fibrosa Cystica) in a Renal Transplant Recipient 肾移植受者多发局灶性棕色肿瘤(囊性纤维性骨炎)
Pub Date : 2022-03-07 DOI: 10.1155/2022/4675041
Thavathurai Priyanthan, A. Hermann, J. A. Bojsen, A. Krøigaard, C. Bistrup, E. B. Pedersen
Brown tumors (BTs) are manifestations of osteitis fibrosa cystica that develops due to increased osteoclast activity secondary to hyperparathyroidism (HPTH). The name comes from its characteristic brown color due to high hemosiderin level and hemorrhage surrounded by osteoclastic giant cells, fibrous tissue, and bone fragments. Presentation can be either unifocal or rarely multifocal. Misdiagnosis of BT compared to malignant giant cell tumor is not uncommon. Early diagnosis and intervention may prevent destructive bone changes. Treatment of BTs due to chronic renal failure should be aimed primarily at its prevention with phosphate binders, vitamin D (analogues), calcimimetics, and prolonged dialysis sessions. Parathyroidectomy can be the option in nonresponsive cases. In this report, we present an unusual case of multiple brown tumors in a 54-year-old female renal transplant patient involving the spine, jaw, and scapula, initially misdiagnosed as giant cell tumor. Five years later, the patient was diagnosed with BT because of the medical history, morphology, and negative p63 staining in combination with secondary/tertiary hyperparathyroidism. The patient subsequently underwent subtotal parathyroidectomy.
褐色肿瘤(BTs)是囊性纤维性骨炎的表现,是由于破骨细胞活性增加继发于甲状旁腺功能亢进(HPTH)而发展起来的。由于高含铁血黄素水平和被破骨巨细胞、纤维组织和骨碎片包围的出血,它的特征是棕色,因此得名。表现可以是单焦点或罕见的多焦点。与恶性巨细胞瘤相比,BT的误诊并不罕见。早期诊断和干预可以防止破坏性的骨变化。治疗慢性肾衰竭引起的BTs的主要目的应该是用磷酸盐结合剂、维生素D(类似物)、石灰化剂和延长透析时间来预防。甲状旁腺切除术可用于无反应的病例。在此报告中,我们报告一例54岁女性肾移植患者发生多发性棕色肿瘤,累及脊柱、颌骨和肩胛骨,最初误诊为巨细胞瘤。5年后,由于病史、形态学和p63阴性染色合并继发性/三期甲状旁腺功能亢进,患者被诊断为BT。患者随后行甲状旁腺次全切除术。
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引用次数: 1
Very Early Severe Posttransplant Recurrent Antineutrophil Cytoplasmic Antibody-Associated Glomerulonephritis after Kidney Transplantation: Two Case Reports 肾移植术后极早期严重复发性抗中性粒细胞胞浆抗体相关性肾小球肾炎2例报告
Pub Date : 2022-03-03 DOI: 10.1155/2022/9740225
Reda Laamech, Hamza Naciri-Bennani, D. Giovannini, Johan Noble, B. Janbon, P. Malvezzi, T. Jouve, L. Rostaing
Successful kidney transplantation (KTx) in patients with antineutrophil cytoplasmic antibody-associated vasculitis (AAV) has been reported with excellent patient and graft survival rates. The recurrence of AAV in transplant recipients is rare, and its mechanisms of action are not clearly known. The optimum time for KTx and the relevance of ANCA titer at the time of transplantation remain controversial. We report two cases of extremely rapid recurrent AAV after renal transplantation; both were still ANCA-positive at the time of transplantation, which led us to question the pathogenesis of ANCA antibodies in recurrence in a kidney allograft. Apheresis plus immunosuppressive therapies were ineffective in the first case and the patient became dialysis-dependent, whereas in the second case methylprednisone pulses plus rituximab infusions resulted in long-lasting remission.
抗中性粒细胞细胞质抗体相关血管炎(AAV)患者成功进行肾移植(KTx)已被报道具有良好的患者和移植物存活率。AAV在移植受者中的复发是罕见的,其作用机制尚不清楚。移植时KTx的最佳时间和ANCA滴度的相关性仍然存在争议。我们报告2例肾移植后极快复发的AAV;两者在移植时仍为ANCA阳性,这使我们质疑ANCA抗体在异体肾移植复发中的发病机制。在第一个病例中,单采+免疫抑制治疗无效,患者成为透析依赖,而在第二个病例中,甲基强的松脉冲+利妥昔单抗输注导致长期缓解。
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引用次数: 3
Dialysis Disequilibrium: Is Acidosis More Important than Urea? 透析不平衡:酸中毒比尿素更重要吗?
Pub Date : 2022-02-22 DOI: 10.1155/2022/4964033
Akshay Athavale, K. Wyburn, P. Snelling, S. Chadban
Dialysis disequilibrium syndrome is a severe complication associated with dialysis treatment. Manifestations may range from mild such as headache to severe such as seizures and coma. Risk factors for development include initial dialysis treatment, uraemia, metabolic acidosis, and extremes of age. We report a case of dialysis disequilibrium in a patient with a failing kidney transplant secondary to the recurrence of IgA nephropathy. Disturbance in cognition and neurologic functioning occurred six hours after the completion of initiation of intermittent haemodialysis. During two sessions of intermittent haemodialysis of 3 and 4 hours, urea was reduced by 21.9 and 17.2 mmol/L and measured serum osmolality was reduced by 25 and 14 mOsm/kg, respectively. Subsequent admission to the intensive care unit and initiation of continuous renal replacement therapy for 48 hours resulted in complete resolution of symptoms. In this case report, we discuss atypical clinical and radiologic features of dialysis disequilibrium occurring with modest reductions in urea and serum osmolality.
透析不平衡综合征是与透析治疗相关的严重并发症。其表现从轻微如头痛到严重如癫痫发作和昏迷不等。发展的危险因素包括初始透析治疗、尿毒症、代谢性酸中毒和极端年龄。我们报告一例透析不平衡的病人与一个失败的肾移植继发IgA肾病。间歇性血液透析开始后6小时出现认知和神经功能障碍。在3和4小时的间歇血液透析期间,尿素分别降低21.9和17.2 mmol/L,血清渗透压分别降低25和14 mmol/ kg。随后进入重症监护室并开始持续肾脏替代治疗48小时导致症状完全缓解。在这个病例报告中,我们讨论了不典型的临床和放射学特征的透析不平衡发生适度减少尿素和血清渗透压。
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引用次数: 1
Coexistence of Lupus Nephritis, Ulcerative Colitis, and Communicating Hydrocephalus: A Report of a 21-Year-Old Male. 狼疮性肾炎、溃疡性结肠炎和通讯性脑积水共存:一个21岁男性的报告。
Pub Date : 2022-02-04 eCollection Date: 2022-01-01 DOI: 10.1155/2022/1079300
Bushra Ali Khan, Nida Saleem, Danyal Hassan, Shabaz Kiani, Muhammad Haneef

Systemic lupus erythematosus (SLE) and ulcerative colitis (UC) are multisystem autoimmune disorders that rarely coexist. We report a case history of a 21-year-old male, presenting with bloody diarrhea and, later, diagnosed to have ulcerative colitis on colonic biopsy. There was clinically silent renal impairment leading to end-stage kidney disease requiring hemodialysis possibly secondary to ongoing lupus nephritis as suggested by positive lupus-specific antibodies' detection. Besides this, the diagnosis of lupus associated with early communicating hydrocephalus was made on CT brain findings which clinically responded well to the initiation of immunosuppressive therapy. It is imperative to keep in mind the remote possibility of ulcerative colitis in an SLE patient with gastrointestinal (GI) manifestations. Communicating hydrocephalus is a rare neurological manifestation of SLE leading to seizures and can respond well to the initiation of steroids and immunosuppressants. Therefore, a trial of immunosuppressant medications must be given even in a patient with end-stage renal disease (ESRD) to halter extra renal rare lupus manifestations.

系统性红斑狼疮(SLE)和溃疡性结肠炎(UC)是多系统自身免疫性疾病,很少共存。我们报告一个21岁男性的病例史,表现为出血性腹泻,后来,结肠活检诊断为溃疡性结肠炎。临床无症状的肾脏损害导致终末期肾脏疾病,需要血液透析,可能继发于持续的狼疮肾炎,狼疮特异性抗体检测阳性。除此之外,根据CT脑部表现诊断狼疮合并早期交通性脑积水,临床对免疫抑制治疗的开始反应良好。有胃肠道(GI)表现的SLE患者必须牢记溃疡性结肠炎的可能性很小。沟通性脑积水是SLE中一种罕见的神经学表现,可导致癫痫发作,对类固醇和免疫抑制剂的起始治疗反应良好。因此,即使是患有终末期肾病(ESRD)的患者,也必须进行免疫抑制药物的试验,以遏制肾外罕见的狼疮表现。
{"title":"Coexistence of Lupus Nephritis, Ulcerative Colitis, and Communicating Hydrocephalus: A Report of a 21-Year-Old Male.","authors":"Bushra Ali Khan,&nbsp;Nida Saleem,&nbsp;Danyal Hassan,&nbsp;Shabaz Kiani,&nbsp;Muhammad Haneef","doi":"10.1155/2022/1079300","DOIUrl":"https://doi.org/10.1155/2022/1079300","url":null,"abstract":"<p><p>Systemic lupus erythematosus (SLE) and ulcerative colitis (UC) are multisystem autoimmune disorders that rarely coexist. We report a case history of a 21-year-old male, presenting with bloody diarrhea and, later, diagnosed to have ulcerative colitis on colonic biopsy. There was clinically silent renal impairment leading to end-stage kidney disease requiring hemodialysis possibly secondary to ongoing lupus nephritis as suggested by positive lupus-specific antibodies' detection. Besides this, the diagnosis of lupus associated with early communicating hydrocephalus was made on CT brain findings which clinically responded well to the initiation of immunosuppressive therapy. It is imperative to keep in mind the remote possibility of ulcerative colitis in an SLE patient with gastrointestinal (GI) manifestations. Communicating hydrocephalus is a rare neurological manifestation of SLE leading to seizures and can respond well to the initiation of steroids and immunosuppressants. Therefore, a trial of immunosuppressant medications must be given even in a patient with end-stage renal disease (ESRD) to halter extra renal rare lupus manifestations.</p>","PeriodicalId":9604,"journal":{"name":"Case Reports in Nephrology","volume":" ","pages":"1079300"},"PeriodicalIF":0.0,"publicationDate":"2022-02-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8843975/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39641773","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Acute Oxalate Nephropathy Caused by Excessive Vegetable Juicing and Concomitant Volume Depletion. 过量蔬菜汁引起的急性草酸肾病。
Pub Date : 2022-01-31 eCollection Date: 2022-01-01 DOI: 10.1155/2022/4349673
Harshad Chaudhari, Jennine Michaud, Nityasree Srialluri, Smita Mahendrakar, Christine Granz, Michael Yudd

Acute oxalate nephropathy (AON) induced by high dietary intake of oxalate-rich food is a rare cause of acute kidney injury and end-stage renal disease (ESRD). We describe a 68-year-old man with adequate baseline renal function who developed severe AON and ESRD. Six months earlier, he started a daily oxalate-rich fruit and vegetable juice diet high in spinach, with a calculated daily oxalate dietary intake of 1500 mg, about 10 times a typical diet. Renal biopsy showed extensive tubular oxalate deposits and acute tubular damage; the renal tissue was relatively free of chronic changes such as glomerulosclerosis, tubular atrophy, and interstitial fibrosis. A year later, he remains dialysis dependent.

由于大量摄入富含草酸的食物而引起的急性草酸肾病(AON)是急性肾损伤和终末期肾病(ESRD)的罕见原因。我们描述了一位68岁的男性,基线肾功能正常,但发展为严重的AON和ESRD。六个月前,他开始每天吃富含草酸的水果和蔬菜汁,多吃菠菜,每天的草酸摄入量为1500毫克,大约是正常饮食的10倍。肾活检显示广泛的小管草酸沉积和急性小管损伤;肾组织相对没有慢性病变,如肾小球硬化、肾小管萎缩和间质纤维化。一年后,他仍然依赖透析。
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引用次数: 1
Candida auris Invasive Infection after Kidney Transplantation. 肾移植后耳念珠菌侵袭性感染。
Pub Date : 2022-01-28 eCollection Date: 2022-01-01 DOI: 10.1155/2022/6007607
Javier Reque, Rosa Arlandis, Nayara Panizo, Maria José Pascual, Alejandro Perez-Alba

Introduction: C. auris has been associated not only with a variety of invasive fungal infections, including candidemia, sometimes related to central venous catheter, but also with pericarditis and respiratory tract and urinary tract infections.

Materials and methods: We describe the case of a patient with persistent fever despite antibiotics, who presented with Candida isolation in blood cultures, typified as Candida auris species.

Results: A 57-year-old male receiving peritoneal dialysis underwent kidney transplantation which was complicated by primary nonfunction due to arterial thrombosis necessitating graft nephrectomy. During the postoperative period, he presented with Pseudomonas aeruginosa pneumonia that was treated with levofloxacin and catheter-related Enterococcus faecalis bacteremia treated with linezolid. After hospital discharge, he then presented with herpes zoster infection treated with valacyclovir. Ten days later, he developed peritonitis and exit site infection with multidrug-resistant Pseudomonas aeruginosa treated with intraperitoneal aztreonam and peritoneal dialysis catheter removal. Despite broad-spectrum antibiotic therapy, the patient remained febrile. All microbiology laboratory tests were negative, so it was decided to stop antibiotic therapy for 48 hours and repeat cultures in order to avoid possible false negatives. In new blood cultures performed after suspension of antibiotic therapy, candidemia was observed, later typified as Candida auris species. After completing antifungal treatment (three weeks with intravenous amphotericin B 100 mg qd and two weeks of intravenous anidulafungin 100 mg qd), microbiological cultures remained negative and the patient made uneventful recovery.

Conclusion: Candida auris invasive infection has been mainly described in patients with severe underlying comorbidities and immunocompromise. Multidrug-resistant clusters of Candida auris are increasingly emerging.

导读:C. auris不仅与多种侵袭性真菌感染有关,包括念珠菌病,有时与中心静脉导管有关,还与心包炎、呼吸道和尿路感染有关。材料和方法:我们描述的情况下,患者持续发烧,尽管抗生素,谁提出了念珠菌分离在血液培养,典型的念珠菌耳种。结果:一名接受腹膜透析的57岁男性患者行肾移植手术,因动脉血栓形成导致原发性肾功能不全,需行移植肾切除术。术后患者出现铜绿假单胞菌肺炎,用左氧氟沙星治疗,导管相关性粪肠球菌菌血症用利奈唑胺治疗。出院后,他又出现带状疱疹感染,用伐昔洛韦治疗。10天后,患者出现腹膜炎和出口部位感染,并发多药耐药铜绿假单胞菌,经腹腔注射氨曲南和腹膜透析导管拔除治疗。尽管进行了广谱抗生素治疗,患者仍处于发热状态。所有微生物实验室检测均为阴性,因此决定停止抗生素治疗48小时并重复培养,以避免可能的假阴性。在停用抗生素治疗后进行的新血培养中,观察到念珠菌,后来被分型为耳念珠菌。在完成抗真菌治疗(静脉注射两性霉素B 100 mg qd 3周,静脉注射阿尼杜拉芬100 mg qd 2周)后,微生物培养结果为阴性,患者顺利康复。结论:耳念珠菌侵袭性感染主要发生在伴有严重潜在合并症和免疫功能低下的患者中。耐多药的金黄色念珠菌群越来越多地出现。
{"title":"<i>Candida auris</i> Invasive Infection after Kidney Transplantation.","authors":"Javier Reque,&nbsp;Rosa Arlandis,&nbsp;Nayara Panizo,&nbsp;Maria José Pascual,&nbsp;Alejandro Perez-Alba","doi":"10.1155/2022/6007607","DOIUrl":"https://doi.org/10.1155/2022/6007607","url":null,"abstract":"<p><strong>Introduction: </strong><i>C. auris</i> has been associated not only with a variety of invasive fungal infections, including candidemia, sometimes related to central venous catheter, but also with pericarditis and respiratory tract and urinary tract infections.</p><p><strong>Materials and methods: </strong>We describe the case of a patient with persistent fever despite antibiotics, who presented with <i>Candida</i> isolation in blood cultures, typified as <i>Candida auris</i> species.</p><p><strong>Results: </strong>A 57-year-old male receiving peritoneal dialysis underwent kidney transplantation which was complicated by primary nonfunction due to arterial thrombosis necessitating graft nephrectomy. During the postoperative period, he presented with <i>Pseudomonas aeruginosa</i> pneumonia that was treated with levofloxacin and catheter-related <i>Enterococcus faecalis</i> bacteremia treated with linezolid. After hospital discharge, he then presented with herpes zoster infection treated with valacyclovir. Ten days later, he developed peritonitis and exit site infection with multidrug-resistant <i>Pseudomonas aeruginosa</i> treated with intraperitoneal aztreonam and peritoneal dialysis catheter removal. Despite broad-spectrum antibiotic therapy, the patient remained febrile. All microbiology laboratory tests were negative, so it was decided to stop antibiotic therapy for 48 hours and repeat cultures in order to avoid possible false negatives. In new blood cultures performed after suspension of antibiotic therapy, candidemia was observed, later typified as <i>Candida auris</i> species. After completing antifungal treatment (three weeks with intravenous amphotericin B 100 mg qd and two weeks of intravenous anidulafungin 100 mg qd), microbiological cultures remained negative and the patient made uneventful recovery.</p><p><strong>Conclusion: </strong><i>Candida auris</i> invasive infection has been mainly described in patients with severe underlying comorbidities and immunocompromise. Multidrug-resistant clusters of <i>Candida auris</i> are increasingly emerging.</p>","PeriodicalId":9604,"journal":{"name":"Case Reports in Nephrology","volume":" ","pages":"6007607"},"PeriodicalIF":0.0,"publicationDate":"2022-01-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8816593/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39756492","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 5
A Novel Homozygous Mutation in the COL4A4 Gene (Gly1436del) Causing Alport Syndrome Exposed by Pregnancy: A Case Report and Review of the Literature. 妊娠暴露导致Alport综合征的COL4A4基因(Gly1436del)新纯合突变1例报告及文献复习
Pub Date : 2022-01-04 eCollection Date: 2022-01-01 DOI: 10.1155/2022/5243137
Ulrich Jehn, Cornelie Müller-Hofstede, Barbara Heitplatz, Veerle Van Marck, Stefan Reuter, Hermann Pavenstädt, Britta George

Background: Alport syndrome results from a hereditary defect of collagen IV synthesis. This causes progressive glomerular disease, ocular abnormalities, and inner ear impairment. Case Presentation. Herein, we present a case of Alport syndrome in a 28-year-old woman caused by a novel mutation (Gly1436del) in the COL4A4 gene that was not unveiled until her first pregnancy. Within the 29th pregnancy week, our patient presented with massive proteinuria and nephrotic syndrome. Light microscopic examination of a kidney biopsy showed typical histological features of segmental sclerosis, and electron microscopy revealed extensive podocyte alterations as well as thickness of glomerular basement membranes with splitting of the lamina densa. One and a half years after childbirth, renal function deteriorated to a preterminal stage, whereas nephrotic syndrome subsided quickly after delivery.

Conclusion: This case report highlights the awareness of atypical AS courses and emphasizes the importance of genetic testing in such cases.

背景:Alport综合征是由胶原合成的遗传性缺陷引起的。这会导致进行性肾小球疾病、眼部异常和内耳损伤。案例演示。在这里,我们提出了一个28岁的妇女Alport综合征的病例,由COL4A4基因的一种新的突变(Gly1436del)引起,直到她第一次怀孕才揭晓。在妊娠第29周,我们的患者出现了大量蛋白尿和肾病综合征。肾活检的光镜检查显示典型的节段性硬化症的组织学特征,电镜显示广泛的足细胞改变以及肾小球基底膜的厚度,并伴有层状致密的分裂。分娩后1年半,肾功能恶化至终末期,而肾病综合征在分娩后迅速消退。结论:本病例报告强调了对非典型AS病程的认识,并强调了基因检测在此类病例中的重要性。
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引用次数: 1
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Case Reports in Nephrology
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