Vincent Guigonis

Moving from bag to catheter for urine collection in non-toilet-trained children suspected of having urinary tract infection: a paired comparison of urine cultures.

OBJECTIVEnTo compare, in the same children, urine culture results from bag- versus catheter-obtained specimens with catheter culture as the reference.nnnSTUDY DESIGNnA total of 192 non-toilet-trained children <3 years of age from 2 emergency departments were recruited for this prospective cross-sectional study. All had positive urinalysis results from bag-obtained specimens that were systematically checked with a catheter-obtained specimen before treatment. Results of comparison of urine cultures obtained with these 2 collecting methods are presented.nnnRESULTSnA total of 7.5% of bag-obtained specimen positive cultures had false-positive results. Twenty-nine percent of bag-obtained specimen cultures with negative results were false negative. Altogether, bag-obtained specimens led to either a misdiagnosis or an impossible diagnosis in 40% of cases versus 5.7% when urethral catheterization was used.nnnCONCLUSIONnEvery bag-obtained positive-result urinalysis should be confirmed with a more reliable method before therapy.

Topical Sodium Thiosulfate: A Treatment for Calcifications in Hyperphosphatemic Familial Tumoral Calcinosis?

CONTEXTnHyperphosphatemic familial tumoral calcinosis (HFTC) and hyperphosphatemia hyperostosis syndrome (HHS) are rare diseases characterized by hyperphosphatemia and ectopic calcifications or recurrent episodes of diaphysitis. In the setting of metabolic or inflammatory diseases, recent data suggest that systemic administration of sodium thiosulfate (STS) could be effective in the treatment of ectopic calcifications but may also be poorly tolerated (digestive symptoms, metabolic acidosis). Our group developed a topical formulation of STS to treat ectopic calcifications locally, therefore limiting patient exposure to the drug and its adverse effects.nnnOBJECTIVEnWe aimed at describing efficacy and tolerance for a topical formulation of STS in treated patients.nnnDESIGNnWe performed a retrospective study wherein clinical, radiological, and biological data before and after the application of the topical STS treatment were collected and analyzed.nnnPATIENTS OR OTHER PARTICIPANTSnThree patients admitted to 3 different hospitals with an ectopic calcification secondary to HFTC or HHS were treated with topical STS.nnnINTERVENTIONnThe topical STS was applied daily by the patients.nnnRESULTSnA significant clinical and radiological decrease of ectopic calcifications was observed after at least 5 months of treatment. The STS treatment was well tolerated and no clinical or biological side effects were observed.nnnCONCLUSIONnTopical STS appears to be a promising treatment for ectopic calcifications secondary to HFTC or HHS.

French Retrospective Multicentric Study of Neonatal Hemochromatosis: Importance of Autopsy and Autoimmune Maternal Manifestations

Neonatal hemochromatosis is a rare disease that causes fetal loss and neonatal death in the 1st weeks of life and is one of the most common causes of liver failure in the neonate. The diagnosis is mostly made retrospectively, based on histopathologic features of severe liver fibrosis associated with hepatic and extrahepatic siderosis. Several etiologies may underlie this phenotype, including a recently hypothesized gestational alloimmune disease. Fifty-one cases of liver failure with intrahepatic siderosis in fetuses and neonates were analyzed retrospectively. Maternal and infant data were collected from hospitalization and autopsy reports. All available slides were reviewed independently by 3 pathologists. Immunologic studies were performed on maternal sera collected immediately after delivery. The diagnosis of neonatal haemochromatosis was retained in 33 cases, including 1 case with Down syndrome and 1 case with myofibromas. Liver siderosis was inversely proportional to fibrosis progression. In fetuses, iron storage was more frequent in the thyroid than in the pancreas. Perls staining in labial salivary glands was positive in 1 of 5 cases. Abnormal low signal intensity by magnetic resonance imaging was detected in the pancreas in 2 of 7 cases. Renal tubular dysgenesis was observed in 7 of 23 autopsy cases. Chronic villitis was seen in 7 of 15 placentas. Half of the mothers presented with an autoimmune background and/or autoantibodies in their sera. Our work highlights the importance of autopsy in cases of neonatal hemochromatosis and marshals additional data in support of the hypothesis that neonatal hemochromatosis could reflect maternal immune system dysregulation.

Clinical and genetic heterogeneity in familial steroid-sensitive nephrotic syndrome

BackgroundFamilial steroid-sensitive nephrotic syndrome (SSNS) is a rare condition. The disease pathophysiology remains elusive. However, bi-allelic mutations in the EMP2 gene were identified, and specific variations in HLA-DQA1 were linked to a high risk of developing the disease.MethodsClinical data were analyzed in 59 SSNS families. EMP2 gene was sequenced in families with a potential autosomal recessive (AR) inheritance. Exome sequencing was performed in a subset of 13 families with potential AR inheritance. Two variations in HLA-DQA1 were genotyped in the whole cohort.ResultsTransmission was compatible with an AR (nxa0=xa033) or autosomal dominant (AD, nxa0=xa026) inheritance, assuming that familial SSNS is a monogenic trait. Clinical features did not differ between AR and AD groups. All patients, including primary (nxa0=xa07) and secondary steroid resistant nephrotic syndrone (SRNS), (nxa0=xa013) were sensitive to additional immunosuppressive therapy. Both HLA-DQA1 variations were found to be highly linked to the disease (ORxa0=xa04.34 and ORxa0=xa04.89; pxa0<xa00.001). Exome sequencing did not reveal any pathogenic mutation, neither did EMP2 sequencing.ConclusionsTaken together, these results highlight the clinical and genetic heterogeneity in familial SSNS. Clinical findings sustain an immune origin in all patients, whatever the initial steroid-sensitivity. The absence of a variant shared by two families and the HLA-DQA1 variation enrichments suggest a complex mode of inheritance.

Delayed-onset Ureteral Obstruction and Calcification Masquerading as Renal Colic Following Deflux Injection

Vesicoureteral reflux is a common disorder in children, and its management has changed entirely as a result of widespread use of endoscopy procedures to inject filler materials. Complications with this type of treatment, particularly ureteral obstruction, are rare. Very few patients with delayed obstruction have been reported in the literature. We here present the case of an 8-year-old girl who exhibited symptoms of febrile renal colic and renal distension more than 5 years after undergoing endoscopic treatment. This is the first reported case of atypical late presentation combining pyelonephritis with ureteral obstruction and calcification.