Fibrinogen A α-chain amyloidosis (AFib amyloidosis) is a form of amyloidosis resulting from mutations in the fibrinogen A α-chain gene (FGA), causing progressive kidney disease leading to kidney ...failure. Treatment may include kidney transplantation (KT) or liver-kidney transplantation (LKT), but it is not clear what factors should guide this decision. The aim of this study was to characterize the natural history and long-term outcomes of this disease, with and without organ transplantation, among patients with AFib amyloidosis and various FGA variants.
Case series.
32 patients with AFib amyloidosis diagnosed by genetic testing in France between 1983 and 2014, with a median follow-up of 93 (range, 4-192) months, were included.
Median age at diagnosis was 51.5 (range, 12-77) years. Clinical presentation consisted of proteinuria (93%), hypertension (83%), and kidney failure (68%). Manifestations of kidney disease appeared on average at age 57 (range, 36-77) years in patients with the E526V variant, at age 45 (range, 12-59) years in those with the R554L variant (P<0.001), and at age 24.5 (range, 12-31) years in those with frameshift variants (P<0.001). KT was performed in 15 patients and LKT was performed in 4. In KT patients with the E526V variant, recurrence of AFib amyloidosis in the kidney graft was less common than with a non-E526V (R554L or frameshift) variant (22% vs 83%; P=0.03) and led to graft loss less frequently (33% vs 100%). Amyloid recurrence was not observed in patients after LKT.
Analyses were based on clinically available historical data. Small number of patients with non-E526V and frameshift variants.
Our study suggests phenotypic variability in the natural history of AFib amyloidosis, depending on the FGA mutation type. KT appears to be a viable option for patients with the most common E526V variant, whereas LKT may be a preferred option for patients with frameshift variants.
Renal involvement in von Hippel-Lindau disease. Renal involvement in von Hippel-Lindau (VHL) disease has emerged as the most prevalent cause of death in this hereditary disorder. In a group of 43 VHL ...patients (23 unrelated families) with renal lesions we examined whether severity of renal disease is affected by parental inheritance and VHL subtype (1, without pheochromocytoma; 2, with pheochromocytoma). We also tested whether and how nephron-sparing surgery could be applied. Renal involvement comprised multiple cysts and bilateral and multifocal carcinomas (RCC) which were detected by screening in 38 patients, at 30.5 (14 to 62) years of age. The severity of the renal disease was similar in VHL type 1 (79% of the pedigrees) and 2 (21%). It was not influenced by the sex of the carrier. Twenty-nine patients were operated on at a mean age of 33.6 years: 21 patients (28 kidneys or 61% of all operated kidneys) underwent nephron-sparing surgery, 4 had complete ablation of involved kidneys and thus required dialysis, 3 had uninephrectomy and 1 had cyst fenestration. Vascular thrombosis was the most severe early complication. It occurred in 4 of 9 kidneys treated by ex vivo surgery. During a median follow-up of 29 months, local recurrence occurred in 5 of 21 (24%) patients treated by nephron-sparing surgery, whereas 2 developed metastasis. Chronic renal failure (creatinine > 120 µmol/liter) affected 11 patients; in 9 of them, it was due to sequelae of surgery. In conclusion, screening of RCC and nephron-sparing surgery are of value in VHL patients. However, indications of ex vivo surgery should be drastically restricted and renal sequelae are not uncommon. Renal followup is required because of the risk of recurrence.
Encrusted pyelitis of native kidneys Hertig, Alexandre; Duvic, Christian; Chretien, Yves ...
Journal of the American Society of Nephrology,
06/2000, Letnik:
11, Številka:
6
Journal Article
Recenzirano
Odprti dostop
This study reports the first four cases of encrusted pyelitis involving native kidneys. The clinical features, management, and outcome of these patients were analyzed. Predisposing factors were ...underlying urologic disease and/or urologic manipulations, debilitating diseases, hospitalization, and prolonged antibiotic therapies. Presenting symptoms were renal failure in three patients with ureteroileal urinary diversion and manifestations of cystitis in one patient. Computed tomography scan of the urinary tract was critical for diagnosis. Presence of struvite was demonstrated by crystalluria and infrared spectrophotometry analysis of the encrusted material. Corynebacterium urealyticum urinary infection was identified in one case. Surgery (one patient) and palliative ureteral diversion (one patient), respectively, led to death and end-stage renal failure. Successful dissolution of encrusted pyelitis was obtained in two patients treated with intravenous vancomycin and local acidification of the renal collecting system. Clinical observation shows that encrusted pyelitis is a threatening disorder that destroys the native kidneys and may lead to end-stage renal failure. Successful treatment of the disease by chemolysis and antibiotics depends on correct and early diagnosis. Diagnosis required recognition of the predisposing factors, computed tomography imaging of the urinary tract, crystalluria, and identification of urea-splitting bacteria with prolonged culture on selective medium.
Mesenteric venous thrombosis is a rare disease but potentially severe because of the prognosis of intestinal infarction with high mortality rate (60%).
We report the case of a 55 year-old man who ...presented with an upper mesenteric venous thrombosis related to a familial resistance to C reactive protein through factor V Leiden mutation.
The discovery of a mesenteric venous thrombosis requires aetiological research that is usually multifactorial. Among the most frequent genetic coagulation abnormalities observed resistance to C reactive protein due to G202110A prothrombin gene mutation is the most common. Although factor V Leiden mutation is less frequent, it requires anticoagulation therapy for life in the case of the appearance of a thrombosis.
DEFINITION OF HYPOURICEMIA: Hypouricemia (serum uric acid less than 120 micro mol/l) is a biological abnormality often discovered accidentally and with a low prevalence depending on its permanent or ...transitory nature ranging from 0.15 to 3.38%. NEW PHYSIOLOGICAL CONCEPTS OF ITS PATHOGENESIS: Recently, our knowledge of the physiopathological mechanisms of hypouricemia has been emphasized by the identification of three systems of renal and extra-renal uric acid transport: a Cl/urate (URAT1) transporter, a multispecific organic anion transporter (OAT) and a urate transporter/channel. ETIOLOGY AND COMPLICATIONS OF HYPOURICEMIA: Through questioning, drugs and toxics (allopurinol.) are generally rapidly recognized as responsible for half of the hypouricemia encountered. It can be concomitant to a known disease: severe liver disease, neoplasia, diabetes, AIDS, syndrome of inappropriate antidiuretic hormone secretion. Hypouricemia can also be isolated and justifies the measurement of uric acid clearance, the normality or reduction of which orients towards a deficiency in xanthine-oxydase, the increase in which suggests an abnormality in uric acid transport in the proximal tubule (Fanconi syndrome, primary hereditary anomaly of tubular uric acid transport). Hypouricemia does not appear to expose the patient to any danger, but the onset of nephrolithiasis or acute renal failure secondary to the combination of severe hypouricemia and oxidant stress is always possible.
L’hypo-uricémie (uricémie inférieure à 120 μmol/l) est une anomalie biologique souvent de découverte fortuite, avec une faible prévalence variant, selon son caractère permanent ou transitoire, de ...0,15 à 3,38 %.
Ces dernières années, la compréhension des mécanismes physiopathologiques des hypo-uricémies a été marquée par l’identification de 3 systèmes de transports rénaux et extra-rénaux de l’acide urique : un échangeur Cl/urate (URAT1), une famille d’échangeurs d’anions organiques (OAT) et un canal à urate.
Par l’interrogatoire, une cause médicamenteuse ou toxique (allopurinol…), qui explique environ la moitié des hypo-uricémies, est généralement vite reconnue. L’hypo-uricémie peut être rattachée à une maladie connue : insuffisance hépato-cellulaire, néoplasie, diabète, syndrome d’immunodéficience acquise, syndrome de sécrétion inappropriée d’hormone antidiurétique. Sinon, l’hypo-uricémie peut apparaître isolée, justifiant la mesure de la clairance de l’acide urique dont la normalité ou la baisse oriente vers un défaut de l’activité de la xanthine-oxydase et l’élévation vers une anomalie du transport tubulaire proximal d’acide urique (syndrome de Fanconi, hypo-uricémie idiopathique familiale). L’hypo-uricémie ne semble exposer directement à aucun danger mais la survenue d’une lithiase urinaire ou d’une insuffisance rénale aiguë, secondaire à la conjonction d’une hypo-uricémie profonde et d’un stress oxydatif, est toujours possible.
Hypouricemia (serum uric acid less than 120 μmol/l) is a biological abnormality often discovered accidentally and with a low prevalence depending on its permanent or transitory nature ranging from 0.15 to 3.38%.
Recently, our knowledge of the physiopathological mechanisms of hypouricemia has been emphasized by the identification of three systems of renal and extra-renal uric acid transport: a Cl/urate (URAT1) transporter, a multispecific organic anion transporter (OAT) and a urate transporter/channel.
Through questioning, drugs and toxics (allopurinol…) are generally rapidly recognized as responsible for half of the hypouricemia encountered. It can be concomitant to a known disease: severe liver disease, neoplasia, diabetes, AIDS, syndrome of inappropriate antidiuretic hormone secretion. Hypouricemia can also be isolated and justifies the measurement of uric acid clearance, the normality or reduction of which orients towards a deficiency in xanthine-oxydase, the increase in which suggests an abnormality in uric acid transport in the proximal tubule (Fanconi syndrome, primary hereditary anomaly of tubular uric acid transport). Hypouricemia does not appear to expose the patient to any danger, but the onset of nephrolithiasis or acute renal failure secondary to the combination of severe hypouricemia and oxidant stress is always possible.
We report the case of a patient with predominantly renal sarcoidosis. Renal failure responded well to systemic corticosteroid therapy. The clinical presentation was particular, notably the absence of ...lung involvement and the presence of cutaneous lymphedema.
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