Dear Dr. Jordan
This is a typical case of Gitelman's syndrome.
I have two such patients with hyperreninaemia but
normal aldosterone. Hypomagnesaemia, hypocalciuria
and hypermagnesuria are always present in contrast to
Bartter's. Diuretic abuse should be excluded. For your
interest the plasma renin and aldosterone levels in my
two cases were:
case 1 (38 y old Female): PRA 15.3 pmol/mL/h,
aldosterone 350 pmol?l.
case 2(40 y old Female): PRA 20.0 pmol/mL/h,
aldosterone 370 pmol/L.
The plasma potassioum in both cases was around 2.1
mmol/L which may be enough to suppress plasma
aldosterone. Both cases responded to a PG synthetase
inhibitor, amiloride and potassium supplements.
Hypomagnesaemia was corrected with magnesium
glycerophosphate 1 g t.d.s.
Regards
--- Phillip Jordan <[log in to unmask]> wrote:
> Can anyone help with a diagnosis or suggest further
> investigations on a
> patient who is proving to be a problem for the local
> endocrinologists (and
> the laboratory!).
>
> A 36-year-old, non-hypertensive, normally fertile,
> female patient on no
> prescribed medication was initially investigated 1
> year ago for "hair loss"
> and "fatigue". She has a degree on increased
> pigmentation, but this is
> adjudged to be more typical of chloasma.
>
> Potassium 2.9-3.3 mmol/l (ref 3.5-5.5) on all
> measurements made over the
> last year.
> HCO3 = 32-33 mmol/l (ref 23-30)
>
> Urine cortisol 195 mmol/24 h (ref. 40-305)
> Random serum cortisol 185 and 266 nmol/l
> Short synacthen test - baseline = 571 nmol/l, +30
> min = 713 nmol/l
> ACTH <10 ng/l
>
> Urine potassium 100-140 mmol/24 h (4 measurements)
> Urine sodium 205-360 mmol/24h (4 measurements)
>
> Recumbent -
> Plasma renin activity 13.6 nmol/l/h (ref 1.1-2.7)
> Aldosterone 130 pmol/l (ref 100-500)
>
> Ambulant -
> Plasma renin activity 21.9 nmol/l/h (ref 2.8-4.5)
> Aldosterone 205 pmol/l (ref 600-1200)
>
> This pattern of results was reproducible when
> re-analysed by a different
> laboratory, and also consistent with an earlier set
> of results.
>
> How can the high PRA and low/normal aldosterone be
> explained in association
> with the hypokalaemia?
>
> Phillip Jordan/Maurice Salzmann
> Clinical Scientist/Consultant Clinical Chemist
> Royal Devon and Exeter Hospital
>
>
>
=====
Dr. M A Al-Jubouri
Consultant Chemical Pathologist
Whiston Hospital
Prescot
Merseyside L35 5DR
UK
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