Autosomal dominant hypertension and brachydactyly in a Turkish kindred resembles essential hypertension.
We examined a Turkish kindred with a unique form of autosomal dominant hypertension that cosegregates 100% with brachydactyly and maps to chromosome 12p. Affected adults were 10 to 15 cm shorter than unaffected people; however, their body mass index (27 kg/m2) was not different. Blood pressure increased steeply with age in the affected people so that by age 40 years, they had a mean blood pressure of 140 mm Hg, compared with 92 mm Hg in unaffected individuals. Complete clinical, roentgenographic, and laboratory evaluation was performed in 6 subjects, including 24-hour blood pressure measurements and humoral determinations before and after volume expansion with 2 L normal saline over 4 hours followed by volume contraction on the following day with a 20-mmol sodium diet and 40 mg furosemide at 8 AM, noon, and 4 PM. Two affected men aged 46 and 31 years; 3 affected women aged 40, 31, and 30 years; and 1 unaffected man aged 29 years were studied. Systolic pressures ranged from 170 to 250 mm Hg, and diastolic pressures ranged from 100 to 150 mm Hg in affected people; the unaffected man had a blood pressure of 120/70 mm Hg. Thyroid, adrenal, and renal functions were normal; electrolyte and acid-base statuses were normal. Calcium and phosphate homeostasis was normal. Day-night circadian blood pressure rhythm was preserved. The subjects were not salt sensitive; renin, aldosterone, and catecholamine values reacted appropriately to volume expansion and contraction. Affected people had mild cardiac hypertrophy and increased radial artery wall thickness. Fibroblasts from affected people grew more rapidly in culture than from unaffected people. We conclude that this novel form of inherited hypertension resembles essential hypertension.
Schuster
H
H
Clinical Research Unit, Max Delbrück Center for Molecular Medicine, Franz Volhard Clinic, Virchow Klinikum, Humboldt University of Berlin, Germany.
Wienker
T F
TF
Toka
H R
HR
Bähring
S
S
Jeschke
E
E
Toka
O
O
Busjahn
A
A
Hempel
A
A
Tahlhammer
C
C
Oelkers
W
W
Kunze
J
J
Bilginturan
N
N
Haller
H
H
Luft
F C
FC
D000328:Adult; D001827:Body Height; D002395:Catecholamines / Q000097:blood; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002881:Chromosomes, Human, Pair 12; D005260:Female; D005385:Fingers / Q000002:abnormalities* / Q000000981:diagnostic imaging; D006439:Hemodynamics / Q000235:genetics*; D006801:Humans; D006973:Hypertension / Q000097:blood* / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010952:Plasma Substitutes / Q000494:pharmacology; D011859:Radiography; D012083:Renin / Q000097:blood; D014421:Turkey
D002395:Catecholamines; D010952:Plasma Substitutes; D012083:Renin