ABSTRACT
This study screened for Fabry disease (FD) in patients in hemodialysis (HD) in the region of Madrid (CAM) with a cross-sectional design to evaluate HD-prevalent patients, followed by a three-year period prospective design to analyze HD-incident patients. INCLUSION CRITERIA: patients older than 18 years on HD in the CAM, excluding patients diagnosed with any other hereditary disease with renal involvement different from FD, that sign the Informed Consent (IC). EXCLUSION CRITERIA: underaged patients or not agreeing or not being capable of signing the IC. RESULTS: 3470 patients were included, 63% males and with an average age of 67.9±9.7 years. 2357 were HD-prevalent patients and 1113 HD-incident patients. For HD-prevalent patients, average time in HD was 45.2 months (SD 51.3), in HD-incident patients proteinuria was present in 28.4%. There were no statistical differences in plasmatic alpha-galactosidase A (α-GAL-A) activity or Lyso-GL-3 values when comparing HD-prevalent and HD-incident populations and neither between males and females. A genetic study was performed in 87 patients (2.5% of patients): 60 male patients with decreased enzymatic activity and 27 female patients either with a decreased GLA activity, increased Lyso-Gl3 levels or both. The genetic variants identified were: p.Asp313Tyr (4 patients), p.Arg220Gln (3 patients) and M290I (1 patient). None of the identified variants is pathogenic. CONCLUSIONS: 76% of HD Centers of the CAM participated in the study. This is the first publication to describe the prevalence of FD in the HD-population of a region of Spain as well as its average α-GAL-A-activity and plasmatic Lyso-Gl3 levels. It is also the first study that combines a cross-sectional design with a prospective follow-up design. This study has not identified any FD patient.
Subject(s)
Fabry Disease , Humans , Male , Female , Middle Aged , Aged , Fabry Disease/epidemiology , Fabry Disease/genetics , Fabry Disease/diagnosis , Cross-Sectional Studies , alpha-Galactosidase/genetics , Renal Dialysis , ProteinuriaABSTRACT
BACKGROUND: Acute interstitial nephritis (AIN) is an emerging cause of acute kidney disease. While this disease usually follows an acute course, it may occasionally recur, representing a major challenge for the clinician. METHODS: We performed a retrospective, observational cohort study in 13 nephrology departments belonging to the Spanish Group for the Study of Glomerular Diseases. Patients with biopsy-proven AIN between 1996 and 2018 were included. RESULTS: The study group consisted of 205 patients with AIN, 22 of which developed recurrent AIN (RAIN) after a median of 111 days from diagnosis. RAIN was due to a surreptitious reintroduction of a previously known implicated drug or toxic in six patients (27%), sarcoidosis in two (9%), Sjögren's syndrome in three (14%), light-chain-mediated AIN in two (9%) and tubulointerstitial nephritis and uveitis syndrome in two (9%), while in the rest of cases (32%), no precise cause could be identified. Microscopic haematuria was more frequent in patients with underlying systemic diseases. The first RAIN episode was treated with a repeated course of corticosteroids in 21 patients (95%). In six cases (27%), azathioprine and mycophenolate mofetil were added as corticosteroid-sparing agents. During a median follow-up of 30 months, 50 patients (27%) with no recurrences and 12 patients (55%) with RAIN reached Stages 4 and 5 chronic kidney disease (CKD). By multivariable logistic regression analysis, RAIN was independently associated with the risk of reaching Stages 4 and 5 CKD, even after adjusting for potential covariables. CONCLUSIONS: RAIN is infrequent but is associated with poor kidney survival. RAIN should prompt clinicians to search for an underlying aetiology other than drug induced. However, in a large percentage of cases, no precise cause can be identified.
ABSTRACT
PURPOSE: To analyse the variations of the renal arteries in two samples, cadaveric and computerized tomographic (CT) images, as well as to propose a simple classification of such variations based on the obtained results and an extensive review of the literature on the topic. MATERIAL AND METHODS: Sixty human dissected kidneys and their vessels, and 583 abdominal CT were studied. RESULTS: A total of 86 arteries were described in the cadaveric sample, whereas 1223 were analysed in the radiological one. Five types (a-e) and patterns (I-V) have been stablished in the classification. Type a, aortic hilar artery, incidences were 79% in cadavers and 95% in CT; Type b, hilar upper polar artery, incidences were 10% in cadavers and 2% in CT; Type c, aortic upper polar artery, incidences were 5% in cadavers and 2% in CT; Type d, aortic lower polar artery, incidences were 3% in cadavers and 1% in CT; Type e, hilar lower polar artery, incidences were 2% in cadaver and less than 0.1% in CT. The pattern represents the number of arteries reaching one kidney. Patterns I-IV were found in cadavers (I: 78%; II: 19%; III and IV: 2%); in CT sample only patterns I (88%) and II (12%). Pattern V was added because it has been described in the reviewed literature. CONCLUSIONS: Type a and pattern I are the most prevalent, both in the cadaveric and the CT samples. Also in the consulted literature. There are no differences in the types and pattern incidences by side or sex. A simple, comprehensive and useful classification is proposed.