Validation of the Maryland Aggregate Pathology Index (MAPI), a pre‐implantation scoring system that predicts graft outcome

Predicting graft outcome after renal transplantation based on donor histological features has remained elusive and is subject to institutional variability. We have shown in a retrospective study that the Maryland Aggregate Pathology Index score reliably predicts graft outcome. We sought to validate the scoring system in our center and a second transplant center. We analyzed 140 deceased donor kidneys pre‐implantation biopsies from center 1 and 65 from center 2. The patients had a mean follow‐up of 695 ± 424 and 656 ± 305 d respectively. Although MAPI scores were similar, there were significant differences in donor and recipient parameters between both centers. Despite this, MAPI was predictive of graft outcome for both centers by Cox univariate, multivariate and time dependent ROC analysis. For center 1 and 2, three yr graft survival within each MAPI group was statistically equivalent. The three‐yr graft survival at center 1 for low, intermediate, and high MAPI groups were 84.3%, 56.5%, and 50.0%, respectively, p ≤ 0.0001, and at center 2 were 83.3%, 33.3%, and 33.3%, p = 0.006. MAPI, which is based on a pre‐implantation biopsy, demonstrated similar predictive and outcome results from both centers. As expanded criteria donors (ECD) criteria have redefined marginal kidneys, MAPI has the potential to further define ECD kidneys, increase utilization, and ultimately improve outcomes.     

Introduction to a special issue on kidney development and disease

Enriching our understanding of the anatomy of the kidneys, in development, health, and disease, has been the primary focus of Professor John Bertram's distinguished research career to date. Among other notable achievements, his landmark analyses of nephron number in over 400 human kidneys (the Monash Series), and his refinement of stereological techniques for renal structural analyses, have proven him an international leader in renal anatomy research. In this Special Issue, we (some of John's collaborators, colleagues, and former students) celebrate John's career with a series of 20 review and original research articles relevant to his expertise: (a) renal anatomy, physiology, and pathology, (b) kidney development, podocyte biology, and applications of renal stem cells, (c) renal developmental programming, and (d) contemporary methodologies in renal research; his accomplishments as a Head (Chair) of an Anatomy Department are also illustrated. We hope that this collection will serve as both an important resource, and a source of inspiration, to renal anatomy researchers and educators alike.     

Rokitansky sequence in association with the facio-auriculo-vertebral sequence: Part of a mesodermal malformation spectrum?

We report on a 4-year-old first-born mono-zygotic twin girl with a hypoplastic left face, mandible and zygoma, left microtia without an external auditory canal, a U-shaped cleft palate, right ectopic-fused kidneys, a blindly ending vaginal pouch, and absent uterus. We review 3 other cases with the manifestations of the Rokitansky and the facio-auriculo-vertebral sequence. The anomalies in these disorders can be thought of as deriving from an early defect or disruption in fetal mesoderm or its progenitor tissue at the time of primitive streak formation. They are frequently associated with other mesodermally derived defects or sequences and may together represent an extended polytopic field defect. While such speculation on how these spatially separated anomalies develop is probably simplistic, the concept of a mesodermal “malformation” spectrum is helpful in reminding the clinician to look for other mesodermal defects when one mesodermally derived defect or sequence is detected.     

阿胶补肾健骨方治疗去卵巢大鼠骨质疏松症的作用机制研究

目的：观察阿胶补肾健骨方对去卵巢大鼠骨质疏松症（OP）的影响,探讨阿胶补肾健骨方防治OP的作用机制。方法：将70只SD大鼠随机分为假手术组（J组）、模型组（M组）、阿胶补肾健骨方组（E组）和阿仑膦酸钠组（A组）。各组手术伤口恢复后,第7天开始灌胃（除J组外）治疗3个月,于末次给药后24 h处死大鼠并采集标本。采用ELISA法检测各组大鼠血清中OCN、PICP水平。结果：M组于造模后2个月起,体重明显高于J组（P＜0.05）;E组、A组体重渐增,显高于J组（P＜0.05）;M组、E组、A组大鼠子宫、双肾指数均不同程度均低于J组（P＜0.05);E组、A组大鼠子宫、双肾指数均高于M组（P＜0.05）;E组大鼠子宫、双肾指数优于A组（P＜0.05）;M组大鼠血清OCN、PICP均明显低于J组（P＜0.05）;E组、A组大鼠血清OCN、PICP水平均高于M组（P＜0.05）;A组大鼠血清OCN高于E组（P＜0.05）;E组大鼠血清PICP高于A组（P＜0.05）。结论：阿胶补肾健骨方可调节脂代谢,升高OP大鼠子宫及双肾指数;升高OP大鼠血清中OCN和PICP的水平,从而达到预防和治疗OP的目的。     

Polycystic kidneys and del (4)(q21.1q21.3): further delineation of a distinct phenotype

A three year-old boy was evaluated because of growth and developmental delay, hypotonia and dysmorphic features. G-banding analysis revealed a small interstitial deletion of the long arm of chromosome four described as 46,XY,del (4)(q21.1q21.3). This patient's findings on physical exam included relative macrocephaly, frontal bossing, short fingers with clinodactyly and were consistent with the phenotypes of previously reported deletions involving the 4q21--> 4q22 band region (Am. J. Med. Genet. 68 (1997) 400-405). To date there are 10 reported live-born cases with such deletions and similar features. The case reported here delimits a minimal critical region for this phenotype to chromosomal region 4q21. Our patient was also found to have cysts in both his kidneys. The gene for type II polycystic kidney disease (PKD2) has been mapped to chromosomal region 4q21--> 4q23. FISH analysis, with a probe including the PKD2 gene, demonstrated hemizygosity at this locus. Thus the absence of one of the PKD2 alleles in the case reported here is associated with early bilateral cyst development. Kidney ultrasound/autopsy studies were reported in seven of the patients with the characteristic phenotype, and were positive for cysts in four cases including the one presented here (Clin. Genet. 31 (1987) 199-205; Am. J. Med. Genet. 68 (1997) 400-405; Am. J. Med. Genet. 40 (1991) 77-790. Our report supports the presence of a distinct phenotype associated with a deleted chromosomal region within 4q21. Hemizygosity for the PKD2 gene is likely in such deletions and may lead to renal cyst formation.     

A review of Meckel–Gruber syndrome – incidence and outcome in the state of Qatar

Meckel–Gruber (MKS) syndrome is a lethal autosomal abnormality diagnosed most commonly from classical findings on ultrasound scan after the late first trimester. There are few reports of cases followed up antenatally until delivery. We report here one of the largest series of 19 cases diagnosed antenatally from as early as 11 weeks gestation with 5 born alive. Of the 12 cases followed up antenatally, 7 were stillbirths while 5 were live births. The absence of obvious polycystic kidneys and severe oligohydramnios were prognostic features consistent with a live birth; however, mortality was 100% within a few weeks of delivery. The incidence of 2/1000 live births in the local population is similar to that reported from similar groups where consanguinity is more than 40%. The recurrence rate was high with 50% of the parous patients having had an affected baby. We conclude that diagnosis in early pregnancy does not require the classical triad of encephalocele, polydactyly and polycystic kidneys as some of these features do not manifest on imaging until much later.     

Analysis of the upper urinary tract function in multiple sclerosis patients

Aims –  The objective of this study was to analyse the upper urinary tract (UT) function in a group of consecutive multiple sclerosis (MS) patients, who had not previously been treated by urologist.
Materials and methods –  Ninety-two MS patients suffering from lower UT dysfunction were included in the study. The group of patients consisted of 69 women and 23 men. The average Expanded Disability Status Scale (EDSS) score in our group was 4.29 (0–8.5). Functional examination of the kidneys using assessment of creatinine clearance and morphological examination of the kidneys using ultrasound was performed in all patients. Analysis of the upper UT function is presented.
Results –  The average serum creatinine clearance in our group was 132.84 ml/min/1.73 m² (46.8–510). Lower levels than normal were found in three patients (3.3%). Abnormal ultrasound findings were recorded in five patients (5.4%). The creatinine clearance was correlated with the clinical subtype of MS, the severity expressed by EDSS, the urodynamic parameters, the duration of the disease, the duration of the symptoms of lower UT and the EDSS score. We did not find a statistically significant correlation for any of these parameters.
Conclusions –  Our results suggest that impairment of the upper UT function is exceptional in MS patients.     

Post-biopsy arteriovenous fistulas of the native kidneys diagnosed by Doppler US

Two patients with arteriovenous fistulas of the native kidney occurring after needle biopsy were evaluated using duplex and color Doppler ultrasonography. The first patient had a fistula with associated pseudoaneurysm: color Doppler showed the lesion as a small rounded area with whirling flow; spectral analysis allowed recognition of both the afferent artery with low impedance flow and the draining vein with pulsatile, arterialized flow. The second patient had a normal color Doppler study; however, spectral analysis demonstrated signals with low vascular impedance from an intra-parenchymal artery at the lower pole, and a jet of turbulent flow. Following disappearance of clinical findings, such Doppler abnormalities were no longer detectable. When a iatrogenic arteriovenous fistula is considered on clinical grounds, both color and Doppler spectral analysis of waveforms from intra-parenchymal vessels should be performed. Possibly, further advances in color Doppler technology will permit the use of this examination as the first imaging procedure in these clinical situations.Correspondence to: L. E. Derchi     

肾脏衰老机制的探讨

随着科学技术及医学的进步和发展,人口老龄化已成为当今社会面临的重要问题,预计到2030年,≥65岁的老年人口将达到目前人数的2倍,且与年龄相关疾病的发生率将随之升高。由于老龄化与发生肾脏疾病的风险相关,因此研究肾脏衰老相关机制,对于降低老年肾脏病发生率、延缓老年肾脏病发展有重要意义,同时也可减轻家庭、社会经济负担。本文旨在回顾既往发表文献,总结肾脏衰老的可能分子机制。