Multicentric Castleman disease with secondary AA renal amyloidosis, nephrotic syndrome and chronic renal failure, remission after high-dose melphalan and autologous stem cell transplantation

Multicentric Castleman disease is a systemic lymphoproliferative disease with incomplete understood etiology. The various renal complications of this disease may include minimal change disease, mesangial proliferative glomerulonephritis, membranous glomerulonephritis and nephrotic syndrome, caused by secondary amyloidosis. In several reported cases of localized Castleman disease associated with renal amyloidosis and nephrotic syndrome, resection of organs involved by lymphoid proliferation resulted in complete remission. However, therapy of multicentric Castleman disease with renal amyloidosis is not well-established. We treated a case of a 39-year-old woman with multicentric Castleman disease complicated by nephrotic syndrome caused by secondary AA amyloidosis. The patient underwent autologous peripheral blood stem cell transplantation (auto-PBSCT), achieving complete remission. Autologous stem cell transplantation may be an attractive choice in therapy for refractory multicentric Castleman disease.     

Reversal of nephrotic syndrome due to AA amyloidosis in psoriatic patients on long-term colchicine treatment. Case report and review of the literature.

A case of nephrotic syndrome due to AA amyloidosis in a young woman suffering from erythrodermic psoriasis and psoriatic arthropathy is reported. The nephrotic syndrome regressed completely during long-term (57 months) colchicine treatment. There are 39 case reports in the literature of psoriasis associated with amyloidosis. More than 85% of these patients had concomitant arthropathy. This suggests that arthritis may be an important factor in the appearance of amyloidosis. 59% of psoriatics with amyloidosis had renal failure and 56% of them died shortly after diagnosis of amyloidosis. These observations support the view that amyloidosis associated with psoriasis is an aggressive disease that may be fatal. However, the clinical course of our patient suggests that renal amyloidosis associated with psoriasis may be successfully treated by colchicine.     

Renal amyloidosis in children

Renal amyloidosis is a detrimental disease caused by the deposition of amyloid fibrils. A child with renal amyloidosis may present with proteinuria or nephrotic syndrome. Chronic renal failure may follow. Amyloid fibrils may deposit in other organs as well. The diagnosis is through the typical appearance on histopathology. Although chronic infections and chronic inflammatory diseases used to be the causes of secondary amyloidosis in children, the most frequent cause is now autoinflammatory diseases. Among this group of diseases, the most frequent one throughout the world is familial Mediterranean fever (FMF). FMF is typically characterized by attacks of clinical inflammation in the form of fever and serositis and high acute-phase reactants. Persisting inflammation in inadequately treated disease is associated with the development of secondary amyloidosis. The main treatment is colchicine. A number of other monogenic autoinflammatory diseases have also been identified. Among them cryopyrin-associated periodic syndrome (CAPS) is outstanding with its clinical features and the predilection to develop secondary amyloidosis in untreated cases. The treatment of secondary amyloidosis mainly depends on the treatment of the disease. However, a number of new treatments for amyloid per se are in the pipeline.     

Remission of the nephrotic syndrome in a patient with renal amyloidosis due to rheumatoid arthritis treated with prednisolone and methotrexate

A 46-year-old woman developed nephrotic syndrome secondary to rheumatoid arthritis (RA). A renal biopsy showed deposition of amyloid fibrils in the subendothelial space of the glomerular capillary walls. After treatment with prednisolone (PSL, 40 mg/day), the levels of C- reactive protein (CRP) and serum amyloid A decreased to within normal limits for 2 weeks. However, the nephrotic syndrome persisted for 6 months after the therapy. To maintain the suppression of disease activity and to reduce PSL, methotrexate (5 mg/week) was added. The nephrotic syndrome resolved gradually, and the level of serum albumin returned to normal. Although renal prognosis of patients with nephrotic syndrome due to amyloidosis caused by RA has been considered poor, adequate and long-term treatment of RA with antiinflammatory drugs, including PSL and methotrexate, is useful for patients with secondary amyloidosis complicated by RA. (Am J Kidney Dis 1998 Nov;32(5):E7)     

Renal amyloidosis secondary to tuberculosis of cecum

Renal amyloidosis can occur as a primary or secondary, systemic or localized disorder. It is defined as a chronic infiltrative disorder characterized by impaired organ function caused by extracellular insoluble protein fibrils. Although colonic tuberculosis is not uncommon, the occurrence of reactive renal amyloidosis in such patients is not as prevalent. We report a single case of renal amyloidosis in a patient with tuberculosis of the cecum who presented with nephrotic syndrome.     

A Case Report of AA Amyloidosis Associated With Familial Periodic Fever Syndrome Diagnosed After Kidney Transplantation: Never Say Never

Recurrent or “de novo” AA amyloidosis in the renal allograft is rarely described. We describe a case of severe nephrotic syndrome in a recipient of a kidney graft with a previous diagnosis of polycystic nephropathy caused by AA amyloidosis diagnosed only after the renal transplantation. The disease was possibly a tumor necrosis factor receptor–associated periodic syndrome (TRAPS). TRAPS is a rare hereditary inflammatory disease never reported to the best of our knowledge, as a de novo diagnosis in the transplantation setting. Biopsy of the renal graft, indicated for the onset of heavy proteinuria, and genetic investigation provided the clues for diagnosis.     

Amyloidosis in a patient with autosomal dominant polycystic kidney disease and tuberculosis: a case report

Autosomal-dominant polycystic kidney disease is an inherited disorder characterized by the development and growth of cysts in the kidneys. Urinary protein excretion is generally less than 1 g/day, and the association of the nephrotic syndrome with this condition is considered rare. A 39-year-old man with autosomal-dominant polycystic kidney disease and nephrotic-range proteiuria is described. During admission, he had general edema and a diagnosis of pulmonary tuberculosis. The patient had hyperlipidemia, hypoalbuminemia, and 11.8 g/day proteinuria. The gingiva and rectum biopsies were performed in order to evaluate the etiology of nephrotic syndrome, and revealed AA amyloidosis thought to be secondary to pulmonary tuberculosis. We maintained the antituberculous treatment and began colchicine at a dose of 2 g/day and candesartan 8 mg/day. To our knowledge, this is the first autosomal-dominant polycystic kidney disease case with nephrotic syndrome due to amyloidosis secondary to pulmonary tuberculosis.     

误诊为过敏性紫癜性肾炎的AL型肾脏淀粉样变性病一例报道及文献复习

目的：通过报道1例以皮肤紫癜和肾损害为主要临床表现的免疫球蛋白轻链κ亚型淀粉样变性病（immunoglobulin light-chain kappa subtypes amyloidosis）的病例,并结合文献系统复习淀粉样变的分型、病理、临床表现、诊断与鉴别诊断及治疗原则,以期提高对该病的认识和重视,避免误漏诊,早期获得正确合理的治疗。方法患者1例,多处反复皮肤紫癜及肾病综合征（nephrotic syn-drome,NS）、镜下血尿、水肿等肾脏受累为主的临床表现,曾为多家医院诊断为“过敏性紫癜性肾炎”。入我院经肾穿刺病理活检。病理诊断：AL-κ亚型肾淀粉样变性病。根据以上临床资料,总结复习相关文献。结果患者经对症及口服激素治疗,病情稳定。结论肾淀粉样变性病是中老年继发性肾病综合征常见的病因之一,并非罕见,应予高度重视。凡具有大量蛋白尿或 NS 的中老年患者,特别是伴皮肤紫癜、低血压、肝大、舌肥大、心脏受累等应进一步行血、尿免疫固定电泳检查,对可疑患者应尽早进行肾活检,争取早期明确诊断、以期早期合理治疗,提高生存质量和生存时间。     

A case of minimal change disease in a Fabry patient

Fabry disease is an X-linked lysosomal storage disorder caused by mutations of the GLA gene and deficiency in α-galactosidase A activity. Glycosphingolipids accumulation causes renal injury that manifests early during childhood as tubular dysfunction and later in adulthood as proteinuria and renal insufficiency. Nephrotic syndrome as the first evidence of Fabry-related kidney damage is rare. We report the case of a teenager with known Fabry disease and normal renal function who developed acute nephrotic syndrome. He was found to have typical glycosphingolipids accumulation with no other findings suggestive of alternative causes of nephrotic syndrome on kidney biopsy. After treatment with enzyme replacement therapy and oral steroids, he went into complete remission from nephrotic syndrome, a response that is atypical for Fabry disease patients who develop heavy proteinuria as a result of longstanding disease and chronic renal injury. The nephrotic syndrome in this patient appears to have developed secondary to minimal change disease. We recommend considering immunotherapy in addition to enzyme replacement therapy in those patients with confirmed Fabry disease and acute nephrotic syndrome with clinical and microscopic findings suggestive of minimal change disease.     

The spectrum of renal involvement in epidermolysis bullosa dystrophica hereditaria: report of two cases

Epidermolysis bullosa dystrophica Hallopeau-Siemens (EBDH) is one of the most severe inherited epidermolyses, a group of mechanobullous dermatological disorders. We observed two patients presenting with a severely multilating type of EBDH who developed biopsy-proven renal disease, which substantially altered the evolution and pathogenesis of their disease. In a boy, chronic postinfectious glomerulonephritis developed, most probably due to recurring superinfections of bullous skin lesions. He also experienced acute oliguric renal failure due to severe diarrhea during exacerbation of EBDH. A female patient developed a nephrotic syndrome due to secondary amyloidosis. Hypoalbuminemia caused further fluid losses through bullous skin lesions, aggravating intravascular hypovolemia and leading to rapid renal failure secondary to bilateral renal vein thrombosis. The study shows that, although rare, renal complications may alter the natural course of EBDH.     

Renal amyloidosis followed more than 5 years: report of 12 cases

Renal involvement with amyloidosis is common but causes patient survival to be poor, rarely reaching 5 years. In this study, we retrospectively reviewed clinical and biological characteristics as well as treatments and outcomes of patients with renal amyloidosis followed for more than 5 years. Between 1975 and 2003, 485 patients were diagnosed with renal amyloidosis including only 12 patients who were followed more than 5 years. The six men and six women of mean age 42.4 years (range 18 to 66 years) displayed renal signs of lower limb edema in all cases; hypertension in four cases, proteinuria on urinalysis in all cases with microscopic hematuria in five cases. Biological tests showed nephrotic syndrome in 11 patients, normal renal function in nine patients, and renal failure in three patients whose mean creatinine was 481.6 micromol/L (range 294 to 726). The amyloidosis was AA type in 11 cases and non-AA in one case. An etiologic survey revealed spondylarthropathy in one patient, pulmonary tuberculosis in two patients, chronic bronchitis in three patients, hepatic hydatic cyst in one patient, Mediterranean familial fever in two patients, Crohn's disease in one patient, Hodgkin's lymphoma in one patient, and multiple myeloma in one patient. Specific treatment was initiated with colchicine in seven patients. At a 110-month mean follow-up (range 53 to 153 months), remission of nephrotic syndrome was observed in four cases, progression to chronic renal failure in two patients, and to end-stage renal failure in five cases (range 53 to 196 months), with stabilization of renal function in seven patients. In conclusion, primary amyloid disease should be optimally suppressed in patients with renal involvement. The role of this treatment in remission of renal amyloidosis is not well established. This efficacy of the treatment has been demonstrated in some patients with improved survival.     

Cardiac and intestinal amyloidosis in a renal transplant recipient with familial Mediterranean fever.

In Turkey, familial Mediterranean fever (FMF) is an important cause of nephrotic syndrome and endstage renal disease due to renal deposition of AA type amyloid. We report a case of living-related donor renal transplant recipient with FMF and renal AA type amyloidosis, who died of progressive heart failure due to cardiac involvement. The patient also had intractable diarrhea caused by biopsy-proven intestinal amyloidosis. The patient was on 1 mg/day colchicine. Although he was attack-free throughout the post-transplant period, intestinal and clinically significant cardiac amyloidosis, which implied the presence of sustained inflammation and continuing amyloid deposition, appeared three years after renal transplantation. Cardiac deposition of AA amyloid may cause clinically significant heart disease, leading to cardiovascular mortality after renal transplantation for end-stage renal disease in FMF patients.     

Giant cell arteritis and renal amyloidosis: report of a case.

Polymyalgia rheumatica and giant cell arteritis are rarely associated with renal diseases such as amyloidosis. Here is a case of a 72-year-old man, who developed some renal failure and a nephrotic syndrome while presenting clinical symptoms of giant cell arteritis. Percutaneous renal biopsy showed secondary amyloidosis, and temporal artery biopsy revealed some lesions which suggested temporal arteritis. In spite of aggressive steroid treatment, chlorambucil, and colchicine, the patient's renal function continued to deteriorate and the patient is now being given hemodyalisis.     

AA type renal amyloidosis secondary to FMF: a long-term follow-up in two patients

Renal amyloidosis, which leads to renal failure, is the most important long-term complication of familial Mediterranean fever (FMF). Resolution of nephrotic syndrome secondary to amyloidosis in FMF following colchicine treatment has rarely been reported. We describe two patients with FMF and nephrotic syndrome. These patients were treated with colchicine 1.5 mg/day and had a complete remission of nephrotic syndrome with a stable clinical course over 30 years. To our knowledge, our patients have the longest follow-up time without proteinuria.     

AA type renal amyloidosis secondary to FMF: a long-term follow-up in two patients

Renal amyloidosis, which leads to renal failure, is the most important long-term complication of familial Mediterranean fever (FMF). Resolution of nephrotic syndrome secondary to amyloidosis in FMF following colchicine treatment has rarely been reported. We describe two patients with FMF and nephrotic syndrome. These patients were treated with colchicine 1.5 mg/day and had a complete remission of nephrotic syndrome with a stable clinical course over 30 years. To our knowledge, our patients have the longest follow-up time without proteinuria.     

Tocilizumab Treatment for Nephrotic Syndrome Due to Amyloidosis in Behcet’s Disease

Renal involvement is an unusual but significant Behcet´s disease (BD) complication and AA amyloidosis appears to be the most common etiology. IL-6 is a pro-inflammatory cytokine with an important role in AA amyloidosis development. Tocilizumab (TCZ) is a humanized anti-IL-6 receptor antibody that has emerged as an effective and specific treatment in AA amyloidosis secondary to chronic inflammatory disorders. We report on a patient diagnosed with BD who developed nephrotic syndrome caused by renal AA amyloidosis with an excellent response to TCZ therapy.     

Tacrolimus-induced HUS: an unusual cause of acute renal failure in nephrotic syndrome

Acute renal failure (ARF) is an uncommon complication in children with nephrotic syndrome. We report here the case of a 10-year-old male child with primary steroid-resistant nephrotic syndrome who was non-responsive to steroids and cyclophosphamide. A kidney biopsy revealed that he had focal segmental glomerulosclerosis. His treatment was initiated with tacrolimus (dose of 0.15 mg/kg/day) in two divided doses along with prednisolone 60 mg/m²/daily. After 1 month of treatment, he was diagnosed as having acute renal failure secondary to HUS. This was postulated to be due to the tacrolimus therapy, which was withdrawn. Two weeks after stopping the adminsitration of tacrolimus, his urine output improved, and the hemoglobin and serum creatinine normalized. Thus, tacrolimus-induced HUS is a rare cause of ARF in nephrotic syndrome. With the increasing use of tacrolimus in steroid-resistant nephrotic syndrome, the treating physicians need to be aware of this rare, but potentially life-threatening side effect.     

肾性骨病发病机制研究及进展

肾性骨病（renal osteopathy）,泛指继发于肾脏疾病的代谢性骨病,是慢性肾脏病晚期与血液透析患者的重要并发症。广义的肾性骨病是指一切和肾脏有关的骨病;狭义的肾病骨病也称肾性骨营养不良（ROD),即慢性肾脏病矿物质和骨代谢紊乱（CKD-MBD）,是慢性肾功能衰竭（CRF）时由于钙、磷及维生素D代谢障碍,继发甲状旁腺机能亢进,酸碱平衡紊乱等因素而引起的骨病。严重影响患者的生活质量。本文论述了肾性骨病的概念、肾性骨病的发病机制、肾性骨病的分型、与肾性骨病相关的分子通路、肾性骨病的治疗原则。旨在为临床肾性骨病的诊断、治疗提供参考。     

Juvenile idiopathic arthritis complicated by amyloidosis with secondary nephrotic syndrome – effective treatment with tocilizumab

A case report of a boy with juvenile idiopathic arthritis since the age of 2 years, generalized onset, complicated by nephrotic syndrome due to secondary type A amyloidosis is presented.In the patient the disease had an especially severe course, complicated by frequent infections, making routine treatment difficult. Amyloidosis was diagnosed in the 5^th year of the disease based on a rectal biopsy. Since the disease onset the boy has been taking prednisolone and sequentially cyclosporine A, methotrexate, chlorambucil, etanercept, and cyclophosphamide. Clinical and laboratory remission was observed after treatment with tocilizumab. After 42 months of treatment with tocilizumab the boy''s condition is good. There is no pain or joint edema, and no signs of nephrotic syndrome.     

Different renal pathologies associated with hypothyroidism

Hypothyroidism may coexist with different renal pathologies. This article describes three cases with hypothyroidism and different renal pathologies. The first patient had hypothyroidism and nephrotic syndrome due to renal amyloidosis and Muckle-Wells Syndrome (MWS). The second patient had hypothyroidism and associated membranoproliferative glomerulonephritis (MPGN). The third patient with hypothyroidism had obstructive acute renal failure caused by retroperitoneal fibrosis.