Cystic fibrosis and renal disease: a case report

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Brief resolved unexplained events: Retrospective validation of diagnostic criteria and risk stratification

Background and Objectives This study retrospectively evaluated the AAP guidelines for diagnosis and risk stratification of Brief Resolved Unexplained Events (BRUE) in a well-characterized cohort of infants admitted with an Apparent Life Threatening Event (ALTE). Further, using prospective follow-up, we endeavored to determine the safety of implementing ambulatory care for the lower risk BRUE population (LR-BRUE) and estimate the cost-savings of this practice. Methods Retrospective application of the BRUE criteria on infants younger than 12 months of age who had been admitted with an ALTE from 2006 to 2016 at a single tertiary care center in Lombardy, Italy. ALTE patients were classified into three groups; (1) Not a BRUE; (2) Lower-risk (LR)-BRUE; and (3) Higher-risk (HR)-BRUE. Patients were contacted prospectively to obtain long-term follow-up outcomes and medical records and billing databases were reviewed. Results Among the 84 infants admitted for an ALTE, 35 (42%) were not a BRUE, 16 (19%) were a LR-BRUE, and 33 (39%) were a HR-BRUE. Only one of the LR-BRUE patients had a subsequent LR-BRUE event, and was later diagnosed with a seizure disorder. Two HR-BRUE babies had also previously presented with a LR-BRUE. Application of the LR-BRUE guidelines would have decreased health expenditure by 20%. There were no deaths or significant morbidities in either BRUE group. Conclusions Applying the recent AAP BRUE guidelines and risk stratification to a well-characterized cohort of admitted ALTE patients is a safe and cost-effective approach. Careful out-patient follow-up is recommended as one of our patients with a LR-BRUE had a recurrence, and was subsequently diagnosed with a seizure disorder

Sensenbrenner syndrome: a new member of the hepatorenal fibrocystic family.

Cranioectodermal dysplasia (CED, Sensenbrenner syndrome; OMIM #218330) is an autosomal recessive disorder reported only in 15 cases, which is characterized by dolichocephaly, rhizomelic dwarfism, dental and nail dysplasia, and progressive tubulo-interstitial nephritis (TIN) leading to end-stage renal failure. Herein, we describe a new patient with cranio-ectodermal dysplasia. Unlike previously reported cases, this 4-year-old child presented with tubulo-interstitial nephropathy associated with liver cystic disease and elevated liver enzymes. The liver biopsy demonstrated congenital hepatic fibrosis secondary to ductal plate malformation. The coexistence of a chronic tubulo-interstitial renal disease with lesions associated to malformations of the hepatic ductal plate indicates that CED as a new member of the congenital hepatorenal fibrocystic syndromes

A cause of late graft dysfunction after liver transplantation in children: de-novo autoimmune hepatitis

Late graft dysfunction (LGD) after liver transplantation (LTx) is commonly associated with rejection, vascular complications, biliary complications, viral and bacterial infectious disease, and recurrence of primitive disease or post transplantation lymphoproliferative disease (PTLD). De-novo autoimmune hepatitis (AH) has recently been described as a possible cause of late graft dysfunction after pediatric and adult LTx not suffering from AH before LTx, once any of the previously mentioned causes of LGD can not be established. [1] and [2] This peculiar form of LGD appears to be associated to clinical, biochemical and histological features of an autoimmune disorder and can be effectively treated with the therapy protocols currently adopted for AH.1 In this study, we retrospectively reviewed our pediatric LTx series to investigate the occurrence of late graft dysfunction and de-novo AH and to analyze the circumstances of diagnosis, the clinical course and the results of therapeutic management of these patients