A hitherto unreported case of 21-hydroxylase deficiency associated with Bartter's syndrome and a balanced 6-9 translocation.
A description is given of a girl with the non-salt-losing type of congenital adrenal hyperplasia (CAH) and with Bartter's syndrome. In addition, the patient had a balanced translocation between 6q and 9p. Although the possibility cannot be ruled out fully that an excess of progesterone might modify the renin-aldosterone axis to some extent, the finding that dexamethasone therapy improved the clinical features of CAH but failed to correct metabolic disorders in electrolyte balance strongly suggests the coexistence of the two clinical entities. Chloride transport at the distal tubule was impaired moderately in the patient, which suggests that her defective reabsorption of chloride was responsible for the impaired renal handling of sodium that is often observed in patients with Bartter's syndrome. It appears that the reciprocal translocation is unrelated to both CAH and Bartter's syndrome since the same translocation was found in her healthy mother and siblings.
Yabe
R
R
Department of Internal Medicine, Fukushima Medical College, Japan.
Mizuno
K
K
Ojima
M
M
Ogawa
S
S
Tani
M
M
Niimura
S
S
Watari
H
H
Kunii
N
N
Suenaga
K
K
Yatabe
Y
Y
D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital / Q000097:blood / Q000150:complications / Q000235:genetics*; D000804:Angiotensin II; D001477:Bartter Syndrome / Q000097:blood / Q000150:complications / Q000235:genetics*; D001794:Blood Pressure / Q000187:drug effects; D002871:Chromosome Banding; D002896:Chromosomes, Human, Pair 6; D002899:Chromosomes, Human, Pair 9; D005260:Female; D006728:Hormones / Q000097:blood; D006801:Humans; D006929:Hyperaldosteronism / Q000235:genetics*; D007621:Karyotyping; D012083:Renin / Q000097:blood; D013250:Steroid Hydroxylases / Q000172:deficiency*; D014178:Translocation, Genetic
D006728:Hormones; D000804:Angiotensin II; D013250:Steroid Hydroxylases; D012083:Renin