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Biomedical subjects

B I Hoffbrand

Publications and source records attributed to B I Hoffbrand.

At least 19 recordsLinked to original sources
PubMed1999

Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness.

H+-ATPases are ubiquitous in nature; V-ATPases pump protons against an electrochemical gradient, whereas F-ATPases reverse the process, synthesizing ATP. We demonstrate here that mutations in ATP6B1, encoding the B-subunit of the apical proton pump mediating distal nephron acid secretion, cause distal renal tubular acidosis, a condition characterized by impaired renal acid secretion resulting in metabolic acidosis. Patients with ATP6B1 mutations also have sensorineural hearing loss; consistent with this finding, we demonstrate expression of ATP6B1 in cochlea and endolymphatic sac. Our data, together with the known requirement for active proton secretion to maintain proper endolymph pH, implicate ATP6B1 in endolymph pH homeostasis and in normal auditory function. ATP6B1 is the first member of the H+-ATPase gene family in which mutations are shown to cause human disease.

Acidosis, Renal Tubular↗
PubMed1993

Comparison of nisoldipine and nifedipine as additional treatment in hypertension inadequately controlled by atenolol.

Twenty-eight patients (11 Caucasian, 17 black) whose blood pressure was more than 160/96 mmHg after 4 weeks on placebo added to atenolol 100 mg/day were randomly given, in addition, nisoldipine 10 mg or nifedipine 20 mg each twice a day for 8 weeks in a double-blind cross-over study. There was a statistically significant (P < 0.001) fall in blood pressure with no change in heart rate, both supine and erect, on both drugs. There were no significant differences between nisoldipine and nifedipine. Adverse effects were recorded in 15%, 17% and 35% of the patients available for safety comparison for placebo, nisoldipine and nifedipine, respectively. There were no significant differences between the black and Caucasian patients in blood pressure responses, although the study had only a low power to detect these. However, the fasting serum triglyceride levels at the end of both calcium antagonist treatment periods were highly significantly lower in the black patients compared with the Caucasian patients. Nisoldipine, which has a higher coronary vascular selectivity and less negative inotropism than nifedipine, is as effective and as well tolerated as nifedipine in patients whose hypertension is inadequately controlled on atenolol. It may have a special role in hypertensive patients with impaired left ventricular function.

Atenolol↗
PubMed1993

A study of plasma sodium levels in elderly people taking amiloride or triamterene in combination with hydrochlorothiazide.

This study was performed to compare the effect of one month's treatment with hydrochlorothiazide (25 mg) in combination with either amiloride (2.5 mg) or triamterene (50 mg) on plasma sodium levels in elderly people in institutional care. Fifty residents of NHS nursing or social service residential care established on diuretics for congestive cardiac failure and aged 64 years or over were recruited. Forty-one patients were included in the final data analysis. Patients on hydrochlorothiazide/amiloride had a significantly lower plasma sodium (137 vs 139 mmol/l, 95% confidence interval for difference between medians 0-2 mmol/l) than those on hydrochlorthiazide/triamterene (P = 0.01). In equivalent potassium-retaining doses, amiloride is associated with significantly lower plasma sodium levels than triamterene, when given in combination with hydrochlorothiazide in elderly patients with congestive cardiac failure. This finding adds weight to uncontrolled observations implicating thiazide/amiloride diuretic combinations in causing serious hyponatraemia. This danger, although uncommon, should perhaps influence prescribing habits in an at-risk population.

Aged↗
PubMed1993

Percutaneous renal biopsy in the district general hospital.

This paper reports a retrospective study of the clinical value of percutaneous renal biopsy in secondary referral centres. Between 1984-90, 205 patients over the age of 16 had 218 biopsies at three district general hospitals. Adequate tissue was obtained in 194 patients (95%, 89% of the biopsies). Significant complications occurred in only four patients. In 170 patients (83%) the biopsy yielded information of diagnostic and prognostic value and influenced management. The main indications for biopsy were nephrotic syndrome, in 63 patients, and chronic renal failure, in 58 patients. The most frequent findings were minimal change disease, focal segmental glomerulosclerosis, IgA nephropathy, membranous glomerulonephritis and mesangiocapillary glomerulonephritis. The most obvious association between indication and histology was between haematuria and IgA nephropathy. Percutaneous renal biopsy in the district general hospital in patients selected by a nephrologist and performed by experienced or supervised operators is a safe procedure. There is a high yield of renal tissue which is of clinical value in patient care.

Adolescent↗
PubMed1990

Contracturing granulomatous myositis: a separate entity.

Granulomatous muscle disease is most commonly seen in sarcoidosis, but may be seen in association with a wide variety of other disorders or in isolation. Patients with granulomatous myositis usually present with slowly progressive muscle pain and weakness affecting mainly proximal muscles. There are, however, a few reports of granulomatous muscle disease presenting with flexion contractures of the limbs. Two further patients with granulomatous muscle disease and flexion contractures of the limbs, but with no evidence of systemic granulomatous disease, is presented. It is suggested that such patients represent a separate clinical entity that is distinct from idiopathic granulomatous myositis presenting with muscle pain and weakness. The association of contracturing granulomatous myositis with a long-standing vasculitis in one patient suggests that the two conditions may be related.

Aged↗
PubMed1990

Chronic bronchial suppuration and antineutrophil cytoplasmic antibody (ANCA) positive systemic vasculitis.

Two patients with long-standing chronic bronchial suppuration developed antineutrophil cytoplasmic antibody (ANCA) positive Wegener's granulomatosis and microscopic polyarteritis respectively. There is published evidence of an association between previous suppurative respiratory disease and Wegener's granulomatosis. We believe that our cases provide further evidence that chronic lung infection may play an aetiological role in the development of ANCA-positive systemic necrotizing vasculitis in some individuals.

Arteritis↗