Dominantly-inherited polycystic kidneys in infants: Association with hypertrophic pyloric stenosis

Newborn male fraternal twins presented at 10 days of age with bilateral flank masses; intravenous urograms showed polycystic kidney disease. Both babies also had hypertrophic pyloric stenosis (HPS). Their father has radiographic and sonographic findings of previously unsuspected polycystic kidneys and has a history of HPS in infancy. The association of dominantly-inherited polycystic kidneys (DPK) and HPS in this family is probably due to chance. However the authors speculate that the autosomal gene for DPK may occur at one of several loci that carry the genetic liability for HPS, a disorder transmitted by polygenic inheritance.     

Main arterial supply of a kidney from the opposite renal artery: an unusual case

Variations in renal anatomy and blood supply are not uncommon, but a supplementary renal artery arising from the opposite renal artery is rare. In such cases the kidneys are usually malrotated and anomalous in position and form. The case of a 65-year-old man with the left main renal artery arising from the opposite renal artery and without such anomalies of the kidneys is presented.     

Severe ovarian dysgenesis and enlarged dysplastic kidneys in two siblings with normal karyotypes

OBJECTIVE: To report a rare case of two normally karyotyped 46,XX siblings with severe ovarian dysgenesis and enlarged dysplastic kidneys. DESIGN: Case report.Rabin Medical Center, a major tertiary university-affiliated care and referral facility. PATIENT(S): A healthy 30-31-year-old woman underwent termination of two pregnancies at 22 and 23 gestational weeks because of ultrasonographic observations of enlarged kidneys in both fetuses. INTERVENTION(S): Prostaglandin-induced pregnancy terminations with feticide. MAIN OUTCOME MEASURE(S): Light microscopy observations. RESULT(S): Both siblings had a 46,XX karyotype, and the maternal alpha-fetoprotein level was within normal limits. In the first, no ovaries were identified, and in the second, bilateral streak ovaries devoid of ova were noted. In both cases, pathological examinations identified large dysplastic kidneys, with dysplastic changes in certain medullary areas. Apart from the kidneys and ovaries, all other organs were normal. CONCLUSION(S): To the best of our knowledge, this is the first report of two normally karyotyped 46,XX siblings with severe ovarian dysgenesis and renal abnormalities but without any other malformations.     

The distribution of epithelial membrane antigen in the kidney and its tumours

The distribution of epithelial membrane antigen (EMA) in the kidney and its tumours has been studied using a polyclonal anti-EMA antiserum and the immunoperoxidase-antiperoxidase technique (PAP). Twelve fetal and 10 adult kidneys examined showed EMA to be confined to the distal tubular or collecting duct epithelium or their embryological precursors. The examination of 55 primary renal tumours showed EMA to be present on the epithelial tumours, on tubular epithelium in nephroblastoma, but not on mesenchymal tumour cells nor on undifferentiated areas of nephroblastoma.     

Acro-renal-mandibular syndrome

We report two female sibs, with severe split-hand/split-foot malformation associated with renal and genital anomalies. The patients also have severe mandibular hypoplasia and some other, minor anomalies. The relationship to the acro-renal “syndrome” in particular and to other phenotypes with similar malformations in general is discussed. Because of consanguinity in the parents, autosomal recessive inheritance seems likely. However, the presence of a septate uterus in the mother and a double collecting system in the only living sib could also suggest possible dominant inheritance with variable expressivity.     

Elucidating the relationship between cardiac preload and renal perfusion under pneumoperitoneum

Introduction Pneumoperitoneum is associated with a well-described decrease in renal blood flow, but it remains unclear whether a decrease in cardiac preload is responsible. Our aim was to characterize the relationship between cardiac preload and renal perfusion during pneumoperitoneum. Methods Eleven pigs were submitted to three 30 minute study periods: 1) Baseline (n=11): no interventions, 2) Pneumoperitoneum (n=11): 12 mmHg CO2 pneumoperitoneum, 3) Preload Reduction: pneumoperitoneum and nitroglycerin infusion (n=8); or pneumoperitoneum and hemorrhage to a mean arterial pressure (MAP) of 40 mmHg (n=3). Echocardiographic measurements of left ventricular end-diastolic diameter (LVEDD) were used as an index of preload. Renal cortical perfusion (RCP) was measured using laser doppler flowmetry. Results LVEDD decreased from 4.2 ± 0.5 to 4.1 ± 0.6 cm (p=0.02) with pneumoperitoneum and then to 4.0 ± 0.5 cm (p=0.03) with the addition of nitroglycerin. There was no statistically significant change in RCP with pneumoperitoneum (33.5 ± 8.4 to 28.5 ± 8.4 ml/min/100g tissue, p=0.2), but it decreased to 18.5 ± 11.3 ml/min/100g tissue (p=0.001) with the addition of nitroglycerin. The correlation between RCP and LVEDD was weak (0.35, p=0.003), whereas correlation between RCP and MAP was superior (R=0.59, p<0.0001). Conclusions While decreasing preload under extreme lab conditions also decreases RCP, simply creating a pneumoperitoneum of 12 mmHg does not. The decrease in renal blood flow associated with pneumoperitoneum is likely not solely a function of preload.     

Is prolonged cold ischemia a contraindication to using kidneys from acute kidney injury donors?

To determine the impact of prolonged cold ischemia time (CIT) on the outcome of acute kidney injury (AKI) renal grafts, we therefore performed a single‐center retrospective analysis in adult patients receiving kidney transplantation (KT) from AKI donors. Outcomes were stratified according to duration of CIT. A total of 118 patients receiving AKI grafts were enrolled. Based on CIT, patients were stratified as follows: (i) <20 hours, 27 patients; (ii) 20‐30 hours, 52 patients; (iii) 30‐40 hours, 30 patients; (iv) ≥40 hours, nine patients. The overall incidence of delayed graft function DGF was 41.5%. According to increasing CIT category, DGF rates were 30%, 42%, 40%, and 78%, respectively (P = .03). With a mean follow‐up of 48 months, overall patient and graft survival rates were 91% and 81%. Death‐censored graft survival (DCGS) rates were 84% and 88% for patients with and without DGF (P = NS). DCGS rates were 92% in patients with CIT <20 hours compared to 85% with CIT >20 hours (P = NS). In the nine patients with CIT >40 hours, the 4‐year DCGS rate was 100%. We conclude that prolonged CIT in AKI grafts may not adversely influence outcomes and so discard of AKI kidneys because of projected long CIT is not warranted when donors are wisely triaged.     

Sharing kidneys across donor-service area boundaries with sensitized candidates can be influenced by HLA C

Bryan CF, Luger AM, Smith JL, Warady BA, Wakefield M, Schadde E, Murillo D, Nelson PW. Sharing kidneys across donor-service area boundaries with sensitized candidates can be influenced by HLA C.
Clin Transplant 2010: 24: 56–61. © 2009 John Wiley & Sons A/S.
Abstract:  The United Network for Organ Sharing (UNOS) implemented the virtual crossmatch system in UNet as a way to improve the likelihood of a negative crossmatch when kidneys are shared with HLA-sensitized candidates across donor service area (DSA) boundaries. The role of HLA C in that process is not universally appreciated. We recently experienced an unexpected positive flow T and B cell crossmatch for an imported, HLA zero-mismatched kidney because of donor-specific HLA C antibodies and transplanted it into the backup candidate. HLA C locus antigens were not typed by the OPO's laboratory that sent the kidney so the UNet virtual crossmatch could not "strike" our candidate from the UNOS match run. HLA C locus typing data of donors for kidneys our DSA imported from other DSAs revealed that C typing was not performed in 23% (14/60) and was discrepant with our molecular type for 10% (6/60) and was concordant in 67% (40/60) of cases. The rate of positive donor-specific crossmatches was higher (83%) for HLA C discrepantly typed donors than for concordantly typed donors (44%). Sensitization for HLA C (42%) is less frequent than for A (80%) or B (83%) locus antigens but the immunogenicity of C locus antigens in patients who make C locus antibodies is equivalent in black and white patients. Finally, the transplant rate of imported kidneys into class I-sensitized candidates was 24%, and C locus-sensitized candidates comprised 55% of those transplanted.