常染色体の相互転座を認めた21-hydroxylase欠損症とBartter症候群の合併例

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A 17-year-old female weighing 37 kg and 140 cm in height was referred to our hospital for evaluation of dwarfism and primary amenorrhea. She was delivered with 3350g in weight and 50cm in height after a ten month pregnancy without complications. No abnormal findings were revealed in physical appearance except critomegaly. Episodes of nausea, vomiting and dehydration were rare throughout her childhood, but she had a tendency to salt craving. At the age of 14, her height was 140cm. On admission, her physical development was markedly retarded for her age, except external genitalia. Diffuse pigmentations on the trunk and extremities were observed. Her blood pressure was normal (112/62mm Hg). Serum potassium concentration was 2.9mEq/L. Arterial-blood gas analysis revealed metabolic alkalosis. Both of renin activity (PRA) and aldosterone concentration (PAC) in plasma at rest were markedly elevated to 15.5ng/ml/h and 107.1 ng/dl, respectively. The plasma concentrations of pregnenolone (1449ng/dl), progesterone (178ng/dl), 17-OH-pregnenolone (1613ng/dl), 17-OH-progesterone (180ng/dl), dehydroepiandrosterone (3706 ng/dl), androstendione (824.6 ng/dl) and testosterone (900 ng/dl) were high, whereas deoxycorticosterone (15.7ng/dl), corticosterone (0.65 μg/dl) and cortisol (6.8μg/dl) were within normal limits. Urinary 17-KS excretion showed high levels between 65.7 and 109.4mg/day, while urinary 17-OHCS excretion was normal (5.7-7.0 mg/day). Vascular response to angiotensin II (A-II) was attenuated. Distal fractional chloride reabsorption was decreased (CH20/CH2O+CCI= 0.62, normal : 0.92±0.04). Moderate hyper plasia of the juxtaglomerular cells was demonstrated in biopsy specimen of the kidney. Cytogenetic studies showed a 46, XX chromosome constitution with translocation of the long arm of chromosome 6 to the short arm of chromosome 9. Her mother as well as younger brother and sister, whose electrolytes and arterial-blood gas analysis showed normal values, had chromosomes with the same translocation. Treatment with dexamethasone (2mg/day) reduced every adrenal steroids to normal range, but PRA and PAC remained high levels. Furthermore, neither hypokalemic alkalosis nor vasoreactivity to exogenous A-II was improved. Indomethacin (75mg/day) decreased urinary excretion of prostaglandin E2 from a high level of 738.4ng/day to 433.4ng/day and normalized metabolic alkalosis. Vascular response to A-II was moderately improved. However, serum potassium remained low. Although hypokalemia was improved by the administration of potassium chloride (max. 80mEq/day), distal fractional chloride reabsorption was not altered (CH2O/CH2O+CCI=0.66). It is possible that progesterone excess might play some role in the activation of the renin-angiotensin-aldosterone system through its natriuretic effect, which might influence clinical feature of the Bartter's syndrome. However, the finding that metabolic disorders were not improved after dexamethasone therapy suggests that the patient was suffered from not only 21-hydroxylase deficiency but also Bartter's syndrome. It seems likely that the reciprocal translocation has no significance to the pathogenesis of 21-hydroxylase deficiency and Bartter's syndrome. As a final note, the defect in chloride reabsorption may be a primary cause of Bartter's syndrome in this patient.
一般社団法人日本内分泌学会の論文

常染色体の相互転座を認めた21-hydroxylase欠損症とBartter症候群の合併例

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