This study identified and characterised 21 novel FH mutations and demonstrated that PRCCII can be the only one manifestation of HLRCC. Due to the incomplete penetrance of HLRCC, the authors propose to extend the FH mutation analysis to every patient with PRCCII occurring before 40 years of age or when renal tumour harbours characteristic histologic features, in order to discover previously ignored HLRCC affected families.

A total of 543 boys suffering from acute scrotal pain underwent emergency surgery between 1986 and 1996. Of these, 91 had a testicular torsion (TT) (16.8%) and 250 had an appendage torsion (AT) (46%). The cause varied with patient age, with most TTs in newborns and boys of 15 years and most ATs in 10-11-year-olds; 21.5% were operated upon within 6 h of the onset of pain and 69.2% within 24 h. Most stayed in hospital for less than 24 h. Pre-surgical examination identified no criterion for excluding TT. We therefore believe that all children complaining of acute scrotal pain should undergo surgery. As release of an inflamed AT reduces pain, three-fourths of the children benefited directly from surgery.

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E 1 0 2 7What ' s known on the subject? and What does the study add?The pathophysiology of post-renal acute kidney injury (PR-AKI), i.e. caused by urinary tract obstruction, has been extensively studied in animal models but clinical studies on this subject are outdated, and/or have focused on the mechanisms of ' post-obstructive diuresis ' (POD), a potentially life-threatening polyuria that can develop after the release of obstruction.In severe PR-AKI, the risk of occurrence of POD is high. POD occurrence predicts renal recovery without the persistence of severe chronic kidney failure. In the present study, the occurrence of POD and the persistence of chronic renal sequelae could be predicted early from clinical variables at admission before the release of obstruction. OBJECTIVE• To identify predictors of post-obstructive diuresis (POD) occurrence or severe chronic renal failure (CRF) persistence after the release of urinary tract obstruction in the setting of post-renal acute kidney injury (PR-AKI). PATIENTS AND METHODS• Bi-centre retrospective observational study of all patients with PR-AKI treated in two intensive care units (ICUs) from 1998 to 2010.• Clinical, biological and imaging characteristics on admission and after the release of obstruction were analysed with univariate and, if possible, multivariate analysis to search for predictors of (i) occurrence of POD (diuresis > 4 L/day) after the release of obstruction; (ii) persistence of severe CRF (estimated glomerular fi ltration rate < 30 mL/ min/1.73 m 2 , including end-stage CRF) at 3 months. RESULTS• On admission, median (range) serum creatinine was 866 (247 -3119) μ mol/L.• POD occurred in 34 (63%) of the 54 analysable patients. On admission, higher serum creatinine (Odds ratio [ OR ] 1.002 per 1 μ mol/L, 95% confi dence interval [ CI ] 1.000 -1.004, P = 0.004), higher serum bicarbonate (OR 1.36 per 1 mmol/L, 95% CI 1.13 -1.65, P < 0.001), and urinary retention (OR 6.96, 95% CI 1.34 -36.23, P = 0.01) independently predicted POD occurrence.• Severe CRF persisted in seven (21%) of the 34 analysable patients, including two (6%) cases of end-stage CRF. Predictors of severe CRF persistence after univariate analysis were: lower blood haemoglobin ( P < 0.001) and lower serum bicarbonate ( P = 0.03) on admission, longer time from admission to the release of obstruction ( P = 0.01) and absence of POD ( P = 0.04) after the release of obstruction. CONCLUSIONS• In severe PR-AKI treated in ICU, POD occurrence was a frequent event that predicted renal recovery without severe CRF.• POD occurrence or severe CRF persistence could be predicted early from clinical and biological variables at admission before the release of obstruction. KEYWORDSacute kidney failure , chronic kidney failure , ureteric obstruction , critical illness , polyuria Study Type -Therapy (case series) Level of Evidence 4

Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a tumor predisposition syndrome caused by heterozygous germline mutations in the fumarate hydratase (FH) gene. Cutaneous and uterine leiomyomas are the most common clinical manifestations of HLRCC, whereas only approximately 20% of the families display renal cell cancer (RCC). The number of RCC cases in these families varies from one to five. Interestingly, families with multiple RCC cases are mainly found in Finland and the USA. Such aggregation of RCC in only some families and populations has led to the hypothesis that besides FH mutations also other inherited genetic and/or environmental factors may contribute to the malignant kidney tumor formation. To search for such a genetic modifier we have performed a genome-wide linkage analysis in two and an identical by descent analysis in four Finnish HLRCC families with several RCC patients. Additional Finnish and French families were used in fine-mapping and haplotype analyses. The only region compatible with linkage was the locus surrounding the FH gene itself in chromosome 1q43. The genes in the putative candidate region were screened, but no potentially pathogenic alterations were observed. Although these data do not rule out the existence of a genetic modifier, they emphasize the contribution of the FH genotype in HLRCC related RCC. Therefore, as all FH mutation carriers may have an increased risk for developing renal cancer, counseling and genetic testing should be offered for all HLRCC family members and clinical follow-up should be organized for the mutation carriers.

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A lipoma of the preputium clitoridis was found in a newborn girl. Ambiguous genitalia was first suspected. Surgery was successfully performed at 5 months.