Springer Science and Business Media LLC

Cystinuria là một rối loạn di truyền lặn trên nhiễm sắc thể thường, đặc trưng bởi sự giảm tái hấp thu cystine và các amino acid hai bazơ (lysine, ornithine và arginine) trong ống thận gần. Bệnh xuất hiện với triệu chứng sỏi thận tái phát. Cystinuria chiếm khoảng 6–8% tổng số sỏi thận ở trẻ em. Thời điểm khởi phát bệnh thường từ 10–30 tuổi. Trong nghiên cứu này, chúng tôi báo cáo một trường hợp cystinuria khởi phát sớm. Một bé gái 4 tháng tuổi đến khám với triệu chứng tiểu máu. Chúng tôi phát hiện nhiều sỏi thận qua siêu âm và chụp cắt lớp vi tính ổ bụng. Chẩn đoán là cystinuria thông qua phân tích sỏi tiểu và phân tích amino acid trong nước tiểu. Bệnh nhân được điều trị bằng cách kiềm hóa nước tiểu và sử dụng thuốc chelat cystine. Phân tích gen cho thấy một đột biến dị hợp tử P482L từ mẹ và một đột biến dị hợp tử A70V từ cha, trong gen SLC7A9. Gen này mã hóa cho một tiểu đơn vị dự đoán của protein vận chuyển amino acid trung tính và cơ bản, BAT1. Mặc dù cystinuria là một bệnh di truyền lặn trên nhiễm sắc thể thường, đã có những báo cáo trước đây cho thấy các đột biến dị hợp tử P482L làm giảm đáng kể sự tái hấp thu cystine và gây ra triệu chứng của cystinuria. Do đó, đột biến P482L có ảnh hưởng lớn của gen SLC7A9 có thể đã góp phần vào sự khởi phát của bệnh di truyền lặn này ở độ tuổi rất trẻ.

We present a case of a young adult male who was treated successfully for renal AA-amyloidosis secondary to human immunodeficiency virus (HIV) infection using highly active anti-retroviral therapy (HAART). He presented with lobar pneumonia, acute kidney injury, nephrotic syndrome and newly diagnosed HIV infection and was initiated on HARRT and haemodialysis. Kidney biopsy was consistent with amyloid deposition of the AA-type. His clinical condition improved gradually and after 10 months of therapy, he regained sufficient excretory function to become dialysis independent. Two years later, he remained well, with a recovered CD4 count and a glomerular filtration rate of 63 mL/min/1.73 m2. Patients with renal AA-amyloidosis typically present with slowly progressive chronic kidney disease, often leading to end-stage kidney disease within months. To our knowledge, this is the first reported case of biopsy proven renal AA-amyloidosis in a newly diagnosed HIV positive patient to present with acute kidney injury leading to dialysis dependence over a period of 2 weeks, which was successfully treated using HAART.

A Japanese female in her twenties developed general edema with heavy proteinuria, and was referred to our hospital. She exhibited the common clinical manifestation of idiopathic nephrotic syndrome with massive proteinuria (20.37 g/day), hypoalbuminemia (1.8 g/dL), and hypercholesterolemia (300 mg/dL). Routine admission tests were positive results for both the rapid plasma reagin latex agglutination test for syphilis (RPR) and the Treponema pallidum particle agglutination assay (TPHA). As such, we made her a diagnosis of nephrotic syndrome due to secondary syphilis. Renal biopsy revealed “full-house” nephropathy. Following the commencement of penicillin treatment, she developed skin rash, indicating the Jarisch-Herxheimer reaction (JHR). Her nephrotic syndrome responded rapidly and she achieved complete remission with antibiotic therapy alone after 4 weeks. In light of the increasing incidence of syphilis in Japan, clinicians should consider syphilis as a reversible cause of nephrotic syndrome.

A 63-year-old man with pharyngeal cancer had been prescribed pilocarpine hydrochloride for xerostomia after concomitant chemoradiotherapy. After 6 months of taking pilocarpine hydrochloride, he was referred to our hospital due to gradually developing renal insufficiency. The patient underwent detailed urinalysis, blood chemistry analysis, immune-serology testing. A renal biopsy was also performed. He was diagnosed with chronic tubulointerstitial nephritis (TIN) caused by lymphocytic infiltration of the interstitium, tubular atrophy, and interstitial fibrotic changes. Infections, autoimmune diseases, and genetic factors were ruled out as causes of TIN; a drug-induced lymphocyte stimulation test confirmed that he had high stimulation index scores for pilocarpine hydrochloride and a normal range stimulation score for other supplements. These results indicated that the TIN could have been induced by pilocarpine hydrochloride. Drug discontinuation partly improved his renal function and tubule marker levels. To our knowledge, this is the first report of TIN following administration of pilocarpine hydrochloride. This finding could contribute to future treatment decisions for patients with TIN and those using pilocarpine hydrochloride.

A 64-year-old man visited our hospital with complaints of misty vision and ophthalmalgia. On admission, his blood pressure (BP) was high at 220/135 mmHg with no past history of hypertension, and he had choked discs. He was tentatively diagnosed as having idiopathic intracranial hypertension, and was later found to have atherosclerotic unilateral renovascular hypertension (RVH) based upon the extremely high plasma renin activity together with the radiological image tests. On day 3, combined antihypertensive therapies consisting of oral angiotensin II receptor blocker (ARB) and Ca channel blocker (CCB) along with intravenous CCB induced an abrupt BP lowering which led to deterioration of his renal function, progressing into acute kidney injury (AKI). Cessation of the ARB and reduction of the CCB dose ameliorated the AKI-related decline in renal function. On day 17, as he was reluctant to receive surgical intervention, he was treated with a direct renin inhibitor, aliskiren, combined with a half-dose CCB as a maintenance antihypertensive therapy. The therapy has proven not only successful to chronically maintain his renal function but was also capable of controlling his BP in the neighborhood of 130/85 mmHg over a period of 2 years. The present case suggests that the direct renin inhibition with aliskiren can be a safe and useful antihypertensive option to control hypertension and to preserve renal function in patients with atherosclerotic unilateral RVH.

We report on a case of the syndrome of inappropriate secretion of antidiuretic hormone (SIADH) associated with lupus erythematosus in the central nervous system (CNS). A 73-year-old woman with essential hypertension suddenly demonstrated consciousness disturbance. Upon her admission, laboratory data showed significant hyponatremia (114 mEq/L) and a lack of body fluid loss. Diminished free water excretion (urine osmolality 684 mOsm/kg) and normal urine Na excretion (FENa 1.70 %) were consistent with the diagnosis of SIADH, which was confirmed by an inappropriately high concentration of plasma antidiuretic hormone (ADH) (15.3 pg/mL at 256 mOsm/kg of plasma osmolality). The hyponatremia was corrected by a combination of oral water intake restriction and saline infusion with furosemide administration until the 20th hospital day. Simultaneously, the presence of exudative pleural effusion in both chest cavities, suggesting the existence of pleuritis, and high titer of anti-nuclear antibody (ANA, 5120×) and anti-double-strand DNA antibody (6500 IU/mL), indicated the subclinical development of systemic lupus erythematosus (SLE), although the diagnostic criteria were not satisfied at that time. On the 34th hospital day, the sudden onset of unknown consciousness disturbance confirmed the diagnosis of SLE as CNS lupus. In previous case reports on SLE and/or SIADH, a few cases in which SLE and SIADH developed concomitantly regularly showed high immunological activities, as in our case. Some common pathophysiological bases might be involved in the concomitant appearance of those disorders.

In recent times, increasing reports of exit site infections (ESI) in peritoneal dialysis (PD) patients related to environmentally acquired atypical organisms, such as nontuberculous mycobacterium (NTM), have been reported in the literature. Among these NTM, Mycobacterium abscessus (M. abscessus) is unique and is associated with high morbidity and treatment failure rates. The international society of PD guidelines suggests individualizing therapeutic options for NTM-related ESI. Moreover, the guidelines encourage simultaneous catheter removal and reinsertion (SCRR) in isolated ESI, not responding to antimicrobial therapy to avoid PD interruptions. Physicians should be aware of the limitations of such approaches as delay in appropriate PD catheter intervention can be fraught with complications in patients with M. abscessus ESI. We report an M. abscessus ESI in a PD patient who underwent SCRR in conjunction with targeted antimicrobial therapy, and developed M. abscessus peritonitis requiring PD catheter removal and conversion to hemodialysis. The patient also developed ESI at the new exit site long after the PD catheter was removed, requiring prolonged antimicrobial therapy. Our case, taken together with available published case reports, highlights the futility of the SCRR approach towards the M. abscessus ESI and makes the cases for early PD catheter removal in these patients.