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  • 1.

    【2hr】IgG4-Related Kidney Disease: A Curious Case of Interstitial Nephritis with Hypocomplementemia

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    机译 IgG4相关性肾脏疾病：间质性肾炎伴低补体血症的奇怪案例
    摘要：IgG4-related kidney disease has been relatively newly recognized over the last two decades as a combination of an autoimmune and allergic disorder, with elevated serum IgG4 level and hypocomplementemia among its characteristic features. Here we report the case of a man with interstitial nephritis presenting with acute kidney injury and hypocomplementemia but normal serum IgG4 level and provide a literature review of IgG4-related kidney disease. This case highlights the importance of IgG4-related kidney disease as an important differential diagnosis in any patient presenting with a clinical syndrome mimicking acute interstitial nephritis with hypocomplementemia. A high index of suspicion with a low threshold for performing a native kidney biopsy would be paramount as patients do respond well to corticosteroid therapy.
  • 2.

    【2hr】Postinfectious Glomerulonephritis with Crescents in an Elderly Diabetic Patient after Acute Gastroenteritis: Case Report

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    机译 老年胃肠炎后糖尿病患者的新月感染后肾小球肾炎：病例报告
    摘要：Postinfectious glomerulonephritis (PIGN) is primarily a disease of childhood. It occurs after upper respiratory tract infection or skin infections. Streptococcus is the most common causative agent, but in the elderly, staphylococcus is the main culprit. In adults, PIGN is more common in immunocompromised patients, particularly diabetics and alcoholics. Here, we report the case of an elderly diabetic male who presented with severe acute kidney injury with active urinary sediment after acute gastroenteritis. Additional analyses revealed a very low serum C3 level and a normal serum C4 level. Renal biopsy showed diffuse proliferative glomerulonephritis with crescents. Direct immunofluorescence showed mesangial and capillary wall staining for C3 and IgG (2+, mesangial and segmental capillary wall, granular). Renal electron microscopy showed subepithelial hump-like electron-dense deposits. The role of steroid in the treatment of PIGN is controversial and there is no standard protocol, but our patient responded very well to steroid as he did not require hemodialysis after 2 weeks of initiation of steroid therapy. We should be aware of an atypical presentation of PIGN in elderly to ensure correct diagnosis.
  • 3.

    【2hr】Severe Complications from an Unexpectedly High Serum Mycophenolic Acid Concentration in a Patient with Renal Failure Secondary to Lupus Nephritis: A Case Report

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    机译 狼疮性肾炎继发性肾衰竭患者血清霉酚酸浓度异常高的严重并发症：一例报告
    摘要：Mycophenolate mofetil (MMF) is used widely to treat lupus nephritis and is considered safer than other immunosuppressive drugs. Reports on severe complications related to MMF are sparse. We report a case of a patient with lupus nephritis in whom severe complications were possibly caused by MMF. The patient was a 17-year-old girl who received a diagnosis of lupus nephritis at the age of 14 years and had been taking steroid and immunosuppressive agents since then. One week after starting MMF 1 g/day instead of mizoribine owing to symptom relapse and serologic data deterioration, she presented with seizure, accompanied by leukopenia, thrombocytopenia, and renal failure. We discontinued MMF because she had extremely high serum mycophenolate acid concentration (88 µg/mL). A few weeks later, she recovered without any complications and was discharged. Although rare, clinicians should be aware that serum mycophenolate acid concentration may become extremely high in the setting of acute kidney injury. In such circumstances, they should perform serum concentration monitoring to avoid possible adverse events.
  • 4.

    【2hr】PLA2R-Negative Membranous Nephropathy Presenting as a Prodrome of IgG4-Related Autoimmune Pancreatitis

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    机译 PLA2R阴性的膜性肾病，表现为IgG4相关的自身免疫性胰腺炎的前兆。
    摘要：Membranous nephropathy (MN) with tubulointerstitial nephritis (TIN) is an established manifestation of immunoglobulin G4 (IgG4)-related disease (IgG4-RD). A pathological feature aiming to distinguish between primary and secondary MN is the presence or absence of glomerular staining for phospholipase A2 receptor (PLA2R), respectively. Isolated MN without TIN has been rarely reported in the context of IgG4-RD. This case report describes a patient with a history of MN successfully treated with steroids and cyclophosphamide, who, 3 years later, presented with unexplained exacerbation of diabetes mellitus due to IgG4-related autoimmune pancreatitis. Pancreatitis was treated, and diabetes improved after treatment with steroids. Based on the presence of isolated IgG4 glomerular capillary deposits along with negative staining for PLA2R and the metachronous appearance of autoimmune pancreatitis, MN was retrospectively classified as secondary to IgG4-RD. Isolated IgG4-positive/PLA2R-negative MN without TIN can be a prodrome of IgG4-RD, reminiscent of MN secondary to neoplasms.
  • 5.

    【2hr】Exercise-Induced Acute Kidney Injury in a Police Officer with Hereditary Renal Hypouricemia

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    机译 遗传性肾功能不全的警官运动诱发的急性肾脏损伤
    摘要：Hereditary renal hypouricemia is characterized by hypouricemia with hyper-uric acid clearance due to a defect in renal tubular transport. Patients with hereditary renal hypouricemia have a higher risk of exercise-induced acute kidney injury (EAKI) and reduced kidney function. Although the best preventive measure is avoiding exercise, there are many kinds of jobs that require occupational exercise. A 27-year-old male police officer suffered from stage 3 AKI after performing a 20-m multistage shuttle run test. His mother had previously been diagnosed as having renal hypouricemia at another facility. The patient had reported having hypouricemia during a health check at a previous police station, but his serum uric acid concentration was within the normal range at our hospital. After treatment, he recovered from EAKI and exhibited low serum uric acid and hyper-uric acid clearance. Since the patient desired to continue his career requiring strenuous exercise, it was difficult to establish a preventive plan against the recurrence of EAKI. Patients with hereditary renal hypouricemia who must undergo strenuous occupational anaerobic exercise are at higher risk of developing EAKI than other workers. The risks of EAKI among patients with hypouricemia should be considered when undergoing physical occupational training.
  • 6.

    【2hr】Faecal Microbiota Transplantation Eradicated Extended-Spectrum Beta-Lactamase-Producing Klebsiella pneumoniae from a Renal Transplant Recipient with Recurrent Urinary Tract Infections

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    机译 从肾移植受者复发性尿路感染的粪便菌群移植根除扩大范围的β-内酰胺酶生产肺炎克雷伯菌。
    摘要：Renal transplant recipients (RTRs) are highly susceptible to infections, and antimicrobial resistance is an increasing problem with limited treatment options. Faecal microbiota transplantation (FMT) is effective for recurrent Clostridium difficile infection and may be used for patients with intestinal carriage of multidrug-resistant (MDR) microorganisms. We present a RTR who suffered from recurrent urinary tract infections (UTIs) caused by extended-spectrum beta-lactamase-producing (ESBL+) Klebsiella pneumoniae. Blood and urinary isolates revealed the same antibiotic susceptibility pattern, and whole-genome sequencing confirmed identical isolates in blood and urine. Despite several treatments with meropenem, the patient experienced recurrent infections that caused hospitalisation. ESBL+ K. pneumoniae was isolated in faeces. In an attempt to decolonise the gut, FMT was performed. A few days after nasojejunal infusion of donor faeces, the patient experienced a single relapse of UTI. During the subsequent 12 months, no further episodes of UTI occurred. Absence of ESBL+ K. pneumoniae in urine and faeces was demonstrated during follow-up. We conclude that FMT may be an effective treatment in RTRs with recurrent UTIs caused by intestinal colonisation with MDR organisms.
  • 7.

    【2hr】Three Patients with Lithium-Associated Hyperparathyroidism: Literature Review Regarding Medical and Surgical Management

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    机译 三名锂相关性甲状旁腺功能亢进症患者：关于医学和外科治疗的文献综述
    摘要：Lithium (Li) carbonate has been established as a mood stabilizer and an efficacious treatment for bipolar disorder since its discovery by Dr. John Cade in 1948. Li interacts significantly with organ systems and endocrine pathways. One of the most challenging side effects of Li to manage is its effect on the parathyroid glands. Dysregulation of parathyroid signaling due to Li results in hypercalcemia due to increased vitamin D<sub>3</sub> generation, increased calcium absorption from the gut, and bone resorption, occasionally resulting in concomitant hypercalciuria. However, hypercalciuria is not a definitive feature for hyperparathyroidism, and normal calcium excretion might be seen in these patients. Hypercalcemia may also result from volume contraction and decreased renal clearance, which are commonly seen in these patients. Anatomically the parathyroid abnormalities can present as single or multiglandular disease. We report 3 cases where the patients developed multiple side effects of Li therapy as well as hypercalcemia due to hyperparathyroidism. The literature is reviewed with regard to medical and surgical management of Li-associated hyperparathyroidism in the context of these 3 presented cases.
  • 8.

    【2hr】Gastrointestinal Manifestations in a Patient with Calciphylaxis: A Case Report

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    机译 糖耐病患者的胃肠道表现：一例报告
    摘要：Calciphylaxis is a rare condition usually seen in patients with significant renal disease, affecting 1–4′ of patients undergoing haemodialysis. Although the disease usually manifests as lesions in the subcutaneous tissue, there have been rare occurrences of calciphylaxis presenting as lesions in the gastrointestinal tract, leading to complications of bowel necrosis and haemorrhage. In view of this, we report the case of suspected gastrointestinal tract calciphylaxis in a 63-year-old patient with end-stage kidney disease (ESKD) who presented with painful swelling in the medial and lateral aspect of both thighs. Physical examination revealed extensive tender subcutaneous tissue nodules suggestive of calciphylaxis. During her hospital admission, the patient developed an episode of gastrointestinal bleeding requiring multiple blood transfusions. A computed tomography scan of the abdomen showed widespread vascular calcification within the aorta and its somatic and visceral branches as well as a splenic infarct. Oesophagogastroduodenoscopy revealed a large gastric ulcer, while flexible sigmoidoscopy revealed necrosis of the rectal mucosa. She was started on vitamin D supplementation and intravenous sodium thiosulphate during each dialysis session. She clinically improved with no further gastrointestinal haemorrhage and partial resolution of her rectal necrosis and was transferred to a rehabilitation facility for further care and discharge planning.
  • 9.

    【2hr】Donepezil Treatment for Alzheimer's Disease in Chronic Dialysis Patients

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    机译 多奈哌齐治疗慢性透析患者的阿尔茨海默氏病
    摘要：Donepezil is one of the cholinesterase inhibitors that are indicated for the treatment of mild to moderate Alzheimer's disease (AD). Pharmacokinetic analysis has shown that donepezil is primarily eliminated by renal excretion rather than biliary excretion in humans. Therefore, patients with impaired renal function are at high risk of toxicity caused by accumulation of this drug. It is also well known that dialysis patients have very often cholinergic disorders. On the other hand, with the increasing number of long-term chronic dialysis patients, the prevalence of cognitive disorders is increasing in elderly dialysis patients. Because of the above-mentioned special risks of these patients, acetylcholinesterase inhibitors, such as donepezil, are avoided to be prescribed for them. We studied 5 cases of chronic hemodialysis outpatients (3 men [70, 72, and 86 years old] and 2 women [65 and 71 years old]) who were diagnosed as having moderate AD. We administered donepezil at 2.5 mg/day orally to the patients. After 1 month's treatment, their behavioral symptoms were improved, without them having any adverse events. We enhanced the dose to 5 mg/day without the patients experiencing any episodes of drug toxicity. After 3 months of treatment with the higher dose, their cognitive and executive functions were slightly improved and their behavioral disorders were remarkably milder, without them experiencing any episodes of drug toxicity. The patients' condition remained stable for 6 months after the initial administration of the drug. All of them were followed for the 10 following years, showing a mild cognitive decline per year for the first 5 years and more severe decline for the remaining years of the follow-up. Our cases indicate that donepezil treatment under prudent use may be well tolerated and have a beneficial impact on chronic hemodialysis patients with AD.
  • 10.

    【2hr】Progressive Renal Dysfunction due to IgG4-Related Kidney Disease Refractory to Steroid Therapy: A Case Report

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    机译 类固醇治疗难治性IgG4相关性肾脏疾病引起的进行性肾功能不全：一例报告
    摘要：Recently, as the number of case reports of IgG4-related kidney disease (IgG4-RKD) has increased, the histopathological features and clinical approach have been clarified. IgG4-RKD generally has a benign prognosis due to the efficacy of steroid therapy and rarely requires dialysis. Herein, we report a case of IgG4-RKD that presented with a subacute onset, advanced to end-stage kidney disease, and finally required maintenance hemodialysis despite steroid therapy. A 75-year-old man was admitted to our hospital for further evaluation of subacute renal failure. Diffuse enlargement of the kidney on computed tomography and increased urinary N-acetyl-β-D-glucosaminidase and α1-microglobulin levels led us to suspect IgG4-RKD. Upon admission, the laboratory serological findings were as follows: creatinine 3.3 mg/dL, urea nitrogen 46.9 mg/dL, and IgG4 235 mg/dL. Urinalysis showed slight proteinuria without hematuria. Percutaneous renal needle biopsy showed diffuse infiltration of abundant lymphocytes and IgG4-positive plasma cells and storiform fibrosis, which is specific to IgG4-RKD, in the interstitium on light microscopy. Slight linear deposition of C3 was also observed in the tubules on immunofluorescence microscopy, with no electron-dense deposits. He was definitively diagnosed as having IgG4-RKD and started on prednisolone 0.6 mg/kg/day. However, the renal insufficiency continued to progress and hemodialysis was necessary. As the prednisolone was tapered, renal function did not improve and maintenance hemodialysis was started. In conclusion, this case indicates that the prognosis of IgG4-RKD is not necessarily benign and that further studies involving more patients are needed.
  • 11.

    【2hr】Monotypic IgG1-kappa Atypical Anti-Glomerular Basement Membrane Nephritis: A Case Report

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    机译 单型IgG1-κ非典型性抗肾小球基底膜性肾炎：一例报告
    摘要：Anti-glomerular basement membrane (anti-GBM) glomerulonephritis is a rare disease caused by autoantibodies against the glomerular basement membrane. Atypical anti-GBM nephritis is clinically less aggressive and characterized by the absence of circulating autoantibodies to the basement membrane. A previously healthy 53-year-old white woman presented with a rising creatinine over a short observation period. Renal biopsy, urinary sediment, and laboratory testing confirmed the diagnosis of atypical anti-GBM disease. She received plasmapheresis, steroids, and cyclophosphamide. She developed hemorrhagic cystitis early in the treatment from oral cyclophosphamide and mycophenolate mofetil was substituted as a first-line drug. She responded favorably and continued on mycophenolate mofetil without evidence of relapse. Despite the absence of circulating autoantibodies, a diagnosis of atypical anti-GBM nephritis should not be excluded if a high index of clinical suspicion exists. Early renal biopsy should be considered. Mycophenolate mofetil may be a reasonable replacement for oral cyclophosphamide in the treatment of atypical anti-GBM disease when cyclophosphamide is contraindicated.
  • 12.

    【2hr】MPGN Type 3 Associated with Pemphigus Herpetiformis Mimicking PGNMID and Dermatitis Herpetiformis

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    机译 MPGN类型3与模仿PGNMID的疱疹天疱疮和疱疹样皮炎相关
    摘要：A 45-year-old man suffering from dermal blistering disease with proteinuria and hematuria underwent renal biopsy. The renal biopsy specimen suggested proliferative glomerulonephritis with monoclonal IgG deposits under routine light, immunofluorescence and electron microscopy. The staining for IgG subclasses (IgG1 and IgG2) and κ/λ light chain indicated secondary immune complex type MPGN type 3. The patient had been diagnosed as having dermatitis herpetiformis (DH), a phenotype of gluten hypersensitivity prior to the appearance of the renal abnormality. Although common autoantibodies might be related to the pathogenesis of disorders in the skin and kidney, DH is mainly driven by IgA autoantibody, while MPGN is induced by IgG immune complexes. IgA was not observed in the glomeruli by immunofluorescence. Neither the examination for DH specific autoantibodies nor HLA-DQB1 genotype supported the diagnosis of DH. Reassessment of the skin biopsy record revealed that the blister was localized in the epidermis, suggesting pemphigus herpetiformis by IgG class anti-epidermal autoantibody, which also affected the renal disorder.
  • 13.

    【2hr】Rapidly Progressive Glomerulonephritis with Delayed Appearance of Anti-Glomerular Basement Membrane Antibody Successfully Treated with Multiple Courses of Steroid Pulse Therapy

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    机译 多过程类固醇脉冲疗法成功治疗快速进展性肾小球肾炎并延迟出现抗肾小球基底膜抗体
    摘要：Patients with anti-glomerular basement membrane (GBM) antibody glomerulonephritis typically exhibit rapidly progressive glomerulonephritis (RPGN). The renal outcome as well as the prognosis of this disease is worse than other forms of RPGN such as those from microscopic polyangiitis. Therefore, early therapeutic intervention is essential to improve its prognosis. One month before referral to our hospital, a 54-year-old female attended another hospital because of macrohematuria. At that time, she had proteinuria and macrohematuria with normal renal function, was negative for anti-GBM antibodies, and was diagnosed with chronic glomerulonephritis. A month later when she was admitted to our hospital, she showed renal insufficiency and was positive for anti-GBM antibodies. Immediately after recognizing the anti-GBM antibody status, plasma exchange and the first course of steroid pulse therapy was started. After 5 days of therapy, renal biopsy confirmed severe crescentic glomerulonephritis in which all the observed glomeruli were involved with cellular crescents. Despite this, she survived without end-stage renal disease after three courses of steroid pulse therapy and seven sessions of plasma exchange. This favorable outcome reflects the repeated analysis of anti-GBM antibodies within a very short period and the rapid therapeutic intervention in addition to the intensive immunosuppressive therapies.
  • 14.

    【2hr】Severe, Symptomatic Hypocalcemia due to Denosumab Administration: Treatment and Clinical Course

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    机译 地诺单抗引起的严重，症状性低钙血症：治疗和临床过程
    摘要：Denosumab is a receptor activator of nuclear factor kappa-B (RANK) ligand inhibitor used in the treatment of osteoporosis. Blockade of RANK ligand prevents osteoclastic resorption of bone, but in doing so impairs the parathyroid hormone (PTH)-driven maintenance of serum calcium. A subsequent elevation of PTH remains active at sites other than bone, potentially lowering serum phosphate by inhibiting proximal tubular reabsorption. We present 2 patients who developed severe, symptomatic hypocalcemia after administration of denosumab. These patients provide an opportunity to describe the clinical course and treatment, including the need to consider a continuous calcium infusion, of severe, symptomatic hypocalcemia caused by denosumab.
  • 15.

    【2hr】Significance of Crescentic Glomeruli in Acute Kidney Injury with Rheumatoid Arthritis

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    机译 新月肾小球在类风湿关节炎急性肾脏损伤中的意义
    摘要：Crescentic glomerulonephritis (GN) without immune reactants or deposits (referred to as pauci-immune) is typically characterized by the presence of anti-neutrophilic cytoplasmic antibodies (ANCA). While ANCA-negative patients might be expected to have a more benign course, they often have poor renal outcomes, especially without treatment with steroids and immune-modulating therapy. Pauci-immune crescentic GN can also co-exist with other autoimmune conditions, including rheumatoid arthritis (RA). Here, we describe an ANCA-negative patient with RA who developed dialysis-requiring acute kidney injury (AKI) with findings consistent with focal pauci-immune crescentic GN (i.e., no IgG or immune complex on kidney biopsy). Coexistent conditions included Klebsiella sepsis attributed to pneumonia, rhabdomyolysis, leukocytoclastic immune-mediated skin vasculitis, and positive ANA. He had spontaneous improvement in renal function without immunosuppressive therapy. This crescentic GN was not associated with poor renal outcome as AKI resolved with supportive care and treatment of his infection. The AKI was likely multifactorial with co-existing acute tubular necrosis in the setting of Kebsiella sepsis and rhabdomyolysis, and the crescentic GN was felt more likely to be related to the infection rather than having a primary role. This case highlights the importance of viewing crescentic GN in the context of the clinical picture, as it may not always lead to the need of aggressive immune suppression and is not a universally poor prognostic kidney finding. However, these cases do warrant close follow-up as our patient had recurrent RA disease manifestations over the next 2 years that eventually led to his death from severe pulmonary hypertension.
  • 16.

    【2hr】Asymptomatic Lupus Cystitis with Bilateral Hydronephrosis

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    机译 无症状性狼疮性膀胱炎伴双侧肾积水
    摘要：Lupus cystitis is a rare complication of systemic lupus erythematosus (SLE). It is characterized by an increase in bladder wall thickness and may be associated with hydroureteronephrosis. Reports, mostly from East Asian countries, indicate that lupus cystitis usually presents with gastrointestinal tract symptoms such as diarrhea, nausea, or abdominal pain. Lower urinarytract symptoms such as dysuria, nocturia, polyuria, and suprapubic pain are also common presenting symptoms. We report a 22-year-old female patient who presented at Cipto Mangunkusumo Teaching Hospital in Indonesia, with profuse and prolonged vaginal bleeding without any other accompanying symptoms. She had a history of polyarthralgias, fever, bleeding gums, anemia, and thrombocytopenia 3 months earlier. Abdominal ultrasound examination revealed bilateral hydronephrosis and a thickened bladder wall; the other organs were normal. Laboratory examination confirmed the diagnosis of SLE complicated by lupus nephritis and lupus cystitis. The patient responded well to the treatment with methylprednisolone. The vaginal bleeding stopped within 2 days, and the laboratory parameters improved. She was discharged on oral methylprednisolone and is scheduled for detailed workup after 1 month.
  • 17.

    【2hr】Three Severe Cases of Viral Infections with Post-Kidney Transplantation Successfully Confirmed by Polymerase Chain Reaction and Flow Cytometry

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    机译 聚合酶链反应和流式细胞术成功证实三例重度肾脏移植后病毒感染
    摘要：Viral infections in patients with post-kidney transplantation are often difficult to diagnose as well as treat. We herein report three cases with severe viral infections after kidney transplantation. All their causative pathogens could be detected promptly by polymerase chain reaction and flow cytometry during the early stages of infection. These examinations would also be of great use to monitor therapeutic responses and disease activity. It is indeed true that no specific treatment is available for most of the viral infections, but we should be aware that some infections, such as Epstein-Barr virus infection, can be treatable with prompt and specific treatment, such as rituximab.
  • 18.

    【2hr】Bile Cast Nephropathy: A Pathologic Finding with Manifold Causes Displayed in an Adult with Alcoholic Steatohepatitis and in a Child with Wilson's Disease

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    机译 胆汁铸型肾病：在患有酒精性脂肪性肝炎的成人和患威尔逊氏病的儿童中显示出具有歧管原因的病理发现
    摘要：Bile cast nephropathy (BCN) is seen in patients who have acute kidney injury and severe hyperbilirubinemia due to a wide range of hepatobiliary system diseases. Findings seen by renal biopsy include acute tubular injury with necrotic and sloughed epithelial cells, yellow-green pigment within tubular epithelial cells, and pigmented granular casts. Hall's special stain for bile turns these casts green. In recent years, BCN has been described in a small number of case reports and clinical studies primarily in the setting of severe liver dysfunction. We present 2 diverse cases of BCN. The first involves an adult with hepatorenal syndrome secondary to alcoholic steatohepatitis and early cirrhosis. Second, we describe the first reported case of BCN in a child with fulminant hepatic failure due to Wilson's disease. Our cases expand the spectrum of causative diseases, and they provide further evidence that BCN is a distinct pathologic entity which may be found in both adult and pediatric patients with a variety of severe liver diseases.
  • 19.

    【2hr】Bioptically Proven “Anticoagulation-Related Nephropathy“ Induced by Dual Antiplatelet Therapy

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    机译 双重抗血小板治疗诱导的经活检证明的“抗凝相关性肾病”
    摘要：Anticoagulation-related nephropathy (ARN) is a significant and underdiagnosed complication in patients who receive anticoagulation therapy. It is characterized by acute kidney injury in the setting of excessive anticoagulation defined as an international normalized ratio > 3.0 in patients treated with warfarin. A definitive diagnosis is made by renal biopsy showing acute tubular necrosis with obstruction of the tubuli by red blood cell casts. However, the evidence shows that ARN can occur during treatment with novel oral anticoagulants as well. Although it has been suggested that antiplatelet therapy, such as aspirin, might contribute to coagulopathy (and therefore the hypothetical risk of ARN), there are no reports of ARN induced by antiplatelet therapy according to our knowledge. It is also reported that glomerular lesions (i.e., kidney disease) represent a risk factor for ARN. We present a case of an 82-year-old man who developed biopsy-proven ARN after the administration of dual antiplatelet therapy with no previous anticoagulation treatment and normal coagulation tests.
  • 20.

    【2hr】Primary Hyperoxaluria Type 1 with Thrombophilia in Pregnancy: A Case Report

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    机译 妊娠合并血栓形成的原发性高草酸尿症1型：病例报告
    摘要：BackgroundPrimary hyperoxaluria type 1 (PH1) is a rare autosomal recessive disease caused by a mutation in the AGXT gene, resulting in deficiency of the alanineglyoxylate:aminotransferase enzyme. It is characterized by accumulation of oxalate in the kidneys and other organs.
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