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Please remember that X-linked adrenoleucodystrophy is found to be the underlying cause in a large proportion (15-30%) of males that present with Addison's in childhood/adolescence, so plasma VLCFA should always be requested in young male cases.

Adam
Newborn Screening & Biochemical Genetics
Birmingham Children's Hospital



-----Original Message-----
From: Clinical biochemistry discussion list [mailto:[log in to unmask]] On Behalf Of Hinchliffe Edward (R0A) Manchester University NHS FT
Sent: 04 May 2018 16:28
To: [log in to unmask]
Subject: Re: Friday afternoon case

Sadly, seems quite topical:

http://www.bbc.co.uk/news/uk-england-hereford-worcester-44003812

-----Original Message-----
From: Clinical biochemistry discussion list [mailto:[log in to unmask]] On Behalf Of Niki Meston
Sent: 04 May 2018 15:35
To: [log in to unmask]
Subject: Friday afternoon case

A 14 year old boy presents to GP with 2 weeks history of lethargy - request form states 'jaundice and lethargy'.
Sample for U&E's, FBC and liver profile received in lab 16:30 on a Friday in April, results electronically transmitted back to GP surgery at 19:00.

Na  122       (<121)
K  6.2           (>6.5)
Urea  18.8    (>30)
Creat  106
Bili  19

This wasn't flagged for 'phoning based on cut-offs from RCPath guidance Nov 2010 on 'Out-of-hours reporting of results requiring urgent clinical attention to primary care' (in brackets above), and the results auto-authorised.

The parents of the boy contacted the OOH service 3 times over the weekend. Results above were available and reviewed, but put down to 'artefactual change' and not repeated, despite the child becoming progressively more unwell.

The child then re-presented to ED on the Monday:

Na  114
K  7.0
Urea  24.7
Creat  150

No prizes for guessing his cortisol at that point was 169 nmol/L with an ACTH of 2817 ng/L (0-46). He was rapidly treated for newly presenting Addison's disease and made a good recovery.

My point is that we only then became aware of the new guidance from RCPath Oct 2017, updating 'phoning limits for children <16 years old in terms of Na, K, urea, creat and Glucose.

We instigated the new guidance within 24 hours of becoming aware of this case; the new cut-off for 'phoning Na at 130 mmol/L (and urea > 10 mmol/L) would have almost certainly lead to a more rapid diagnosis, and so treatment.

Am I missing some way of being advised of new relevant guidance from the RCPath - we have actually been awaiting this guidance for some time?

I hope this case can serve to bring the new guidance to anyone else's attention who has yet to read them.

Dr Niki Meston
Consultant Chemical Pathologist
Salisbury NHS Foundation Trust

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