Favorable Outcome With Eculizumab in Hemolytic Uremic Syndrome Presenting With Severe Neurological Complications: A Case Report [0.03%]
补体抑制剂依库珠单抗治疗溶血性尿毒症综合征严重神经系统并发症的疗效：个案报告
Maryam Zaitoun,Abdulkarim Alanazi,Tasneem Kattash et al.
Maryam Zaitoun et al.
Introduction: Thrombotic microangiopathies (TMAs) are a group of rare, life-threatening disorders characterized by a classic triad of MAHA, severe thrombocytopenia, and ischemic tissue injury. Thrombotic thrombocytopenic ...
A Rare Diagnostic Dilemma of P-ANCA/MPO Positive Crescentic Glomerulonephritis in an Immunosuppressed Lupus Patient [0.03%]
免疫抑制状态下P-ANCA/MPO阳性的狼疮膜增生性肾炎一例
Omar Elrefy,Sweta Carpenter,Manu Saini et al.
Omar Elrefy et al.
Perinuclear antineutrophil cytoplasmic antibodies (P-ANCAs) and myeloperoxidase (MPO) antibodies are detected in 15%-25% of lupus nephritis patients, but systemic lupus erythematosus (SLE)/ANCA-associated vasculitis (AAV) overlap syndrome i...
Adalimumab for AA Amyloidosis Secondary to Severe Hidradenitis Suppurativa [0.03%]
阿达利姆单抗治疗严重汗腺炎继发AA型淀粉样变病
Ghalia Khellaf,Souad Chelghoum,Houria Sahel et al.
Ghalia Khellaf et al.
Hidradenitis suppurativa (HS) (Verneuil's disease) is a chronic inflammatory cutaneous disorder with systemic inflammatory potential. A rare and severe sequela of this sustained inflammation is reactive (AA) amyloidosis, typically presentin...
Exercise-Induced Rhabdomyolysis With Markedly Elevated Creatine Kinase and Preserved Renal Function [0.03%]
明显高肌酸激酶且肾功能正常的运动诱发横纹肌溶解症病例报告
Navuddh Oam,Sophareine Samphon,Pisey Say et al.
Navuddh Oam et al.
Background: Exercise-induced rhabdomyolysis results from skeletal muscle injury after strenuous or unaccustomed exertion. Acute kidney injury is a feared complication, but creatine kinase magnitude alone is an imperfect p...
The Common Collagen of Alport Syndrome and Arthritis: A Case Report and Review of Pathophysiology [0.03%]
Alport综合征和关节炎的共同胶原蛋白：病例报告及发病机制综述
Craig A Mendonca,Lalarukh Haider,Anusha Attre et al.
Craig A Mendonca et al.
Aim: Through the lens of a clinical case, we explore the overlap in pathophysiology between Alport syndrome and seronegative inflammatory arthritis, focusing on the collagen structural changes that can occur in Alport syn...
Liddle Syndrome Presenting as Hypertensive Crisis and Myocardial Injury in a Young Male: A Case Report [0.03%]
一名年轻男性以高血压危象和心肌损伤为表现的利德尔综合征病例报告
Abbas Khan,Alina Batool,Askar Nisar et al.
Abbas Khan et al.
Introduction: Liddle's syndrome is a rare inherited disorder associated with early-onset and resistant hypertension due to hyperactivity of epithelial sodium channels (ENaCs). The condition is caused by mutations in the g...
Dual Aetiology of Diabetes Insipidus in Pregnancy: Vasopressinase-Mediated and Central Mechanisms [0.03%]
妊娠糖尿病 insipidus 的双重病因：血管加压素酶介导机制和中枢机制
Philani Ezekiel Mkhize,Pauli van Heerden,Tholakele Sabela et al.
Philani Ezekiel Mkhize et al.
Diabetes insipidus (DI) is a heterogeneous disorder characterised by polyuria and polydipsia due to impaired arginine vasopressin (AVP) secretion or action. We describe a 36-year-old pregnant woman who presented at 28 weeks' gestation with ...
A Novel NPHS1-Associated Phenotype Characterized by Recurrent Transient Proteinuria [0.03%]
一种NPHS1基因突变导致的反复一过性蛋白尿的新表型
Etsuko Tanaka,Takao Konomoto,Hiromi Sakaguchi et al.
Etsuko Tanaka et al.
We herein report the case of a 2-year-old girl with novel compound heterozygous NPHS1 variants, p.R460Q (a known loss-of-function mutation) and p.V822M (a rare variant with reported pathogenicity and relatively mild functional effects). She...
Gitelman Syndrome in a Child Presenting With Polyuria and Polydipsia: Diagnostic Challenges in a Resource-Limited Setting [0.03%]
一名以多尿和烦渴就诊的儿童的Gitelman综合征的诊断困境——资源匮乏条件下的挑战
Erneus Ernest,Devis Simbila
Erneus Ernest
Gitelman syndrome (GS) is a rare inherited renal salt-wasting tubulopathy characterized by hypokalemia, hypomagnesemia, and hypocalciuria. Its nonspecific presentation often overlaps with that of more common pediatric conditions, leading to...
Bilateral Renal Artery Thrombosis With Distal Abdominal Aortic Dissection as the First Presentation of Takayasu Arteritis [0.03%]
Takayasu动脉炎的首次表现为双侧肾动脉血栓形成伴远端腹主动脉夹层
Mihiran Thanigasalan,Mehatheepan Rasanayagam,Mathu Selvarajah
Mihiran Thanigasalan
Background: Takayasu arteritis (TAK) is a chronic granulomatous large-vessel vasculitis that predominantly affects the aorta and its major branches, leading to stenosis, occlusion, or aneurysmal changes. Renal artery dise...