Everything you need to know about ARPKD
Post on 13-Feb-2017
September 2014 Volume 165 Number 3 Copyright 2014 by Elsevier Inc.A new paradigm forhypoparathyroidism
Thomas R. Welch, MDThe management of most hormone deficiency states is straightforward: suspect hor-mone deficiency based upon clinical presentation, confirm deficiency with labora-tory testing, treat with exogenous hormone, and assess for clinical and laboratoryimprovement. This approach has been the standard for generations for conditionssuch as type 1 diabetes, growth hormone deficiency, hypothyroidism, and others.
One notable exception to this approach has been hypoparathyroidism. With no hor-mone replacement, children with hypoparathyroidism have been treated with combina-tions of calcitriol, phosphate binders, and thiazide diuretics. This often is a trickybusiness, with a number of possible complications. A recombinant human parathyroidhormone (PTH) product has been available and used in adults for quite some time. Therehave been many reports of its off-label use in children. The current issue of the Journal in-cludes an important article that expands the use of the drug.
Winer et al, at the National Institutes of Health, describe 12 children with hypoparathy-roidism treated with recombinant PTH 1-34 by continuous pump infusion, analogous tothe approach increasingly used in type 1 diabetes. In theory, such deliverymakes sense in lightof the known diurnal variation in PTH levels. When compared with twice-daily administra-tion, pump therapy provided much better metabolic control in this group of patients.
Although this therapy is not yet ready for prime time, the study by Winer et al is impor-tant. It sets the stage for infantile and pediatric hypoparathyroidism finally fitting into thetherapeutic paradigm that has been employed for decades in other deficiency states.
Article page 556Variability in care forchildren hospitalizedfor pneumonia: noexcuses this time
Sarah S. Long, MDWe know that pneumonia is the leading cause of hospitalization for children inthe US, and that there is documented substantial variability in diagnostic testsperformed and antibiotic choices made across both practitioners and freestandingchildrens hospitals.
Three-quarter of US children who receive hospital care, however, are inpatients in gen-eral community hospitals and childrens hospitals within larger hospitals. Leyenaar et alcaptured administrative data from the Perspective Data Warehouse, which collects inpa-tient information from geographically and structurally diverse hospitals (representing15% of all hospitalizations nationally), not unlike data captured through the PediatricHealth Information System for freestanding childrens hospitals. The 18 000 cases ofacute uncomplicated pneumonia in previously healthy 1- to 18-year-old patients includedin the current analysis represented care in 104 general hospitals and 21 childrens hospitalswithin larger hospitals.
One might have guessed that there would be more widespread variation in managementin these different settings compared with freestanding childrens hospitals. Wrong! Therewas remarkably less variability, but in the wrong direction in juxtaposition to the 2011 Pe-diatric Infectious Diseases Society and Infectious Diseases Society of America clinical prac-tice guidelines on management of community-acquired pneumonia in children.Approximately 75% of children received a third-generation cephalosporin (which spec-trum is unnecessary and not advantageous for acute uncomplicated pneumonia), 5%-10% received a macrolide alone (which spectrum and efficacy clearly are inferior for bac-terial pneumonia), and fewer than 1% received an ampicillin-containing regimen (the drugof choice for uncomplicated, presumed bacterial pneumonia).(Continues on next page)
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428Even considering the myriad limitations of administrative data bases, the difficulties ofdiagnosing pneumonia accurately, and qualms about practice guidelines, the findings areappalling to a pediatric infectious diseases (PID) subspecialistboth for overuse ofcompletely unnecessary therapy in the vast majority and failure to use the optimal therapyin others.Manypossible reasons for thefindings arediscussed (eg, newness of guidelines, pres-ence of adult guidelines in the absence of pediatric guidelines or pathways in community hos-pitals, adult-trained emergency medicine physicians choosing initial management). Theseseem like a cop-out. The 2011 guidelines were not revolutionary, but merely affirmed thelong-time recommendation of PID subspecialists. The therapeutic approach of blanket useof third-generation cephalosporins is decades outdated and hardly defensible for treatmentof pneumonia when their use was in vogue in pediatric emergency departments for youngchildren with fever and no focus of infection. Its the responsibility of physicians who carefor children in community hospitals, in childrens hospitals within larger hospitals, and infreestanding childrens hospitals to engage in continuingmedical education, to be good stew-ards of antibiotics, to understand optimal management of common diseases, and to applysuch knowledge confidently to every child, regardless of geography or setting. Theresmuch work to be done.
Article page 585Analgesia useand race
Robert W. Wilmott, MDChildren attending pediatric emergency departments should have pain controlledeffectively. However, even though analgesia use for such children has increased,earlier studies have shown that there are racial disparities. To investigate this question,Rasooly et al from George Washington University analyzed the National HospitalAmbulatory Medical Care Survey and sampled visits by patients in the pediatric agegroup for potentially painful conditions. The results showed that there were over27 000 such visits between 2005 and 2010, and analgesia was administered in 41%of them. In multivariate analysis, although black race had no impact on administra-tion of any analgesia, the variables of patient black race and being treated in hospitalswith a high proportion of black patients were independently associated with lowerodds of opioid use. These results indicate that black children are treated differentlyfor pain even within a hospitals with a high number of black patients.
The study by Rasooly et al is put into perspective in an editorial by Elder et al and consid-ered along with previous research. Although the new study has some limitations, the issueseems to be well established, and it is suggested that the healthcare community should beengaged in ensuring that disparate treatment is reduced. The article and editorial bothconclude that the evidence for this aspect of racial disparities in healthcare is strong andneeds deeper exploration.
Article page 618Editorial page 434Finding teens wherethey liveon their
smartphones Sarah S. Long, MDAsmall interviewbased survey of teens and parent/caregivers in waiting rooms forclinic visits in urban Bronx, New York, showed that 84% of those interviewedowned a smartphone and 57% used it as their primary internet source. Additionally,smartphone users had a mean 14.5 applications (apps), with 70% of users access-ing apps more than three times daily. The teens were amenable to receiving health-care information/appointments/management reminders by smartphone, and wereinterested in a medical app. Medical topics of most interest to teens were thoserelated to reproductive and mental health, topics which were different from the in-terests of their caregivers, but are topics that providers would agree also are our ma-jor concerns for teens. An important aspect of this study is that the subjects werearguably the most in need and hardest to find; 80% had not graduated fromhigh school, 90% were black or Hispanic, and most were poor and living in oneof the poorest congressional districts in the US.
Several barriers to a future with mobile health resources for teens exist, but withfurther study and determination, they do not seem insurmountable. Amethod of offsettingVol. 165, No. 3
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September 2014fees for apps would seem a good investment if it assured teens exposure to accurateinformation and empowered people at a young age to take charge of their health.
Article page 606The cost ofreflexive orders
Thomas R. Welch, MDIn the grand scheme of healthcare costs, unnecessary blood tests may not seem likevery much. On the other hand, as the late Everett Dirksen was said to have remarked,.a billion here and a billion there, and pretty soon youre talking real money. (Thecomment is probably apocryphal, but the point is real.)
How often dowe reflexively order sed rate and CRPwhen assessing a child with suspectedinflammatory disease?Howoftendowe get information from the two tests thatwould not havebeen provided by one? In this issue of The Journal, Kainth et al asked these questions for theirinstitution, the University of Rochester. Over the period they studied, they estimated thatordering both tests instead of one added about $ 250 000 to $ 400 000 in annual charges.They then reviewed 100 randomly-selected medical records from children undergoing bothtests. More than three-quarters of the time, the results of the testing were concordant. Innone of the situations inwhich theywere discordant was there any documentation by the treat-ing clinicians of the impact of the discordant results on clinical decisionmaking. If their resultswere extrapolatednationally, eliminating this commonduplicationof tests could save $ 300 000in hospital charges annually. Real money.
Article page 625Everything you needto know about ARPKD
Thomas R. Welch, MDMany of us first learned about autosomal recessive polycystic kidney disease(ARPKD) under the name infantile polycystic kidney disease, an unfortunateterm. The disease begins at conception and continues after infancy, the lesions arenot exactly cystic, and the kidney is not the only organ affected.
ARPKD is now understood as one of the emerging group of disorders mediated by abnor-malities in ciliatheciliopathies (J Pediatr2012;160:366-71).Thepresentationof thedisordercan range from severe neonatal disease with irreversible pulmonary failure to the complica-tions of portal hypertension in an adolescent previously thought to be well.
Beyond the identification of the molecular basis of ARPKD, there have been a number ofadvances in genetic diagnosis, perinatal and neonatal management, and recommendationsfor surveillance of known patients. Until now, it was impossible to find this informationclearly summarized in a single resource.
The current issue ofThe Journal features the report of an international workshop. The par-ticipants are a virtual whoswho in theARPKDfield, ledbyLisaGuay-Woodford fromChil-drens National Medical Center. The report is presented in a very user-friendly format, andprovides clear evidence-based guidelines for the disorder. This report will become a valuedreference for nephrologists, hepatologists, perinatologists, neonatologists, geneticists, andthe host of other specialists caring for these very complex children.
Article page 611Maternal anxiety anddepression and
childhood allergicsymptoms and
mental well-being Robert W. Wilmott, MDChildren with eczema and asthma have been reported to have poorer mental healththan healthy children. Eczema and asthma also are associated with maternal anx-iety and depression. To investigate the relationships between these symptoms, Teyhanet al from the University of Bristol have studied data from 7250 children in the AvonLongitudinal Study of Parents and Children. The results indicate that maternal anxietyand depression may mediate the association between rash and wheeze in children anddecreased mental well-being. The various causal pathways whereby this mechanismcould occur are discussed by the authors. If confirmed, treatment to relieve thematernal symptoms could optimize the mental well-being of children with asthmaand eczema.
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A new paradigm for hypoparathyroidismVariability in care for children hospitalized for pneumonia: no excuses this timeAnalgesia use and raceFinding teens where they liveon their smartphonesThe cost of reflexive ordersEverything you need to know about ARPKDMaternal anxiety and depression and childhood allergic symptoms and mental well-being