This could fit with pseudo-Bartters too. This patient has a history of 'refractory slow transit IBS'. Is it possible that she is taking or had in the past taken laxatives regularly; have you done a laxative screen before thinking of genetic testing etc? Patients with chronic laxative and diuretic abuse can develop pseudo-Bartters with autonomous renin secretion due to juxtaglomerular hyperplasia triggered by long term use of laxatives or diuretics. This autonomous secretion of renin may continue even when they do not use these medications any longer, so a negative test for these drugs does not exclude pseudo-Bartters. Suggest ask if patient uses or had used laxatives in the past for a long time to ease her sypmtoms. Some patients with long-term use of laxatives or diuretics also develop idiopathic oedema so suggest check for that too. ACE inhibitors in low dose help normalizing K in pseudo-Bartters
Best regards, Rita
________________________________
From: Clinical biochemistry discussion list [[log in to unmask]] On Behalf Of Nick Miller [[log in to unmask]]
Sent: Saturday, 18 May 2013 6:53 AM
To: [log in to unmask]
Subject: Re: ? Bartters / Gitelmans
Sally,
Don’t know much about Gitelmans, but I investigated a number of Barrters patients in olden times. They included individuals in their 20’s and 30’s, so it appears that Barrters can indeed present outside of childhood and infancy.
I would be interested to hear about the genetic testing for these conditions if someone can enlighten me.
She has a raised PRA with a hypokalaemic alkalosis, so her loss of potassium is renal and not related to her GI problems (which would give her a hypokalaemic acidosis). Urine Mg also depends on intake as well, and serum Mg is maintained at the expense of intracellular Mg – so the serum level of Mg only goes down when you’ve got severe intracellular de-saturation of Mg.
Don’t forget to look for diuretic abuse and liquorice addiction. One of the patients I looked at (whose case notes had already been published in NEJM) liked to chat and once offered me a sweet as I sat on his bedside in the ward. He produced the largest packet of liquorice allsorts I have ever seen out of his locker (“all my family eat them”). Glycyrrhizic acid is a mild anti-inflammatory and people with GI problems are prone to eating liquorice as a consequence, which would also produce the results you report.
Nick Miller
London
From: Clinical biochemistry discussion list [mailto:[log in to unmask]] On Behalf Of Sally Slack
Sent: 17 May 2013 15:51
To: [log in to unmask]
Subject: ? Bartters / Gitelmans
Dear collective wisdom:
Does anyone have thoughts on this case?
43 year old female with refractory slow transit IBS. Note to have persistent hypokalaemic metabolic alkalosis and referred to the renal team for further investigation.
She has persistent hypokalaemia (K 2.7) with raised bicarb (44). Low serum Cl (86), normal serum mg (0.89).
We have done some further investigations as per my old MRCPath notes (I knew they would come in handy!)
Of note:
Urine diuretic screen is negative.
Urine Chloride 30mmol/L on spot urine
Urine Calcium / creatinine ratio = 0.31 mmol/mmol on a spot urine.
Raised Renin 17.5 nmol/L/hr (0.5-3.5)
Aldosterone = 315 pmol/L (100-850)
Current treatments listed below:
Potassium chloride 1200mg 3 times daily, Colchicine 500 micrograms 2 tablets twice daily, Olsalazine 500mg once daily, Fybogel 1 sachet daily, Amitriptyline 75mg daily.OCP. No other meds.
My understanding (correct me if Im wrong) is that it’s the Gitelmans patients that present later in life, but this patient doesn’t have the classic low serum Mg, or a low urine Ca.
Hmmm, now im stuck!
Help please?! Further tests? Does anyone do the genetics? What have I missed?
Big thanks,
Sally
Sally Slack
Principal Clinical Biochemist
Department of Clinical Biochemistry
York Hospital
Wigginton Road
York
YO31 8HE
01904 725599
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