Severe hypoplasia of the abdominal aorta and its branches in a patient and his daughter.

We report the history of a patient and his daughter, both affected with hypoplasia of the abdominal aorta and its branches, leading to early and dramatic complications. In the index patient, renal ischaemia as a result of severe hypoplasia of the abdominal aorta and the origin of renal arteries led to progressive renal failure and end-stage renal disease at the age of 32 years. Other vascular abnormalities included hypoplasia of the celiac trunk (CT) and superior mesenteric artery (SMA). After a successful kidney transplantation at the age of 40 years, he eventually deceased following an episode of possibly ischaemic acute pancreatitis at 47 years. The patient's daughter suffered from an haemorrhagic stroke at the age of 7 years, which led to the discovery of severe hypertension caused by bilateral narrowing of renal arteries, as well as hypoplasia of CT, SMA, subclavian and pulmonary arteries. Biopsy of the narrowed renal artery of the daughter showed a particular form of fibrodysplasia characterized by an unusual fibrosis of the inner part of the media, just beneath the internal elastic lamina. To our knowledge, this is the first report of familial hypoplasia of the abdominal aorta. It might be the cardinal manifestation of a familial form of fibromuscular dysplasia (FMD). Interestingly, the histological lesions described in the daughter's renal artery differ from the classical form of medial FMD.

Hereditary paraganglioma.

Head and neck paraganglioma is a rare tumour, especially in its familial form. We report a case of a multifocal head and neck paraganglioma in a young man with a family history of cervical tumours. At the age of 24, exploration of a left cervical swelling disclosed jugulotympanic and carotid body paragangliomas. Surgical removal of both tumours was performed. Two years later, a right carotid body as well as vagal paragangliomas were discovered. Follow-up at age 30 demonstrated relapse of the bilateral cervical paragangliomas, but also aortopulmonary and mesogastric paragangliomas. Cervical paragangliomas were also detected in the patient's sister and daughter, but not in his father. Furthermore, the proband's paternal grandmother and a maternal great-uncle had a history of 'neck scar'. This family history is suggestive of an autosomal dominant pattern of inheritance with maternal genomic imprinting. Genetic analysis of paraganglioma kindreds showed linkage with two different loci: 11q13.1 and 11q22.3-q23. Further knowledge of the genes involved could provide early diagnosis and accurate genetic counselling in affected families. Thorough familial investigation is consequently mandatory in all head and neck paragangliomas, especially in younger patients with multiple localizations, as surgical removal is safer at an early stage.

[Renal fibromuscular dysplasia and cerebral aneurysm in a hypertensive patient with a familial history of cerebral vascular complications]. / Dysplasie fibromusculaire rénale et anévrisme cérébral chez une patiente hypertendue avec histoire familiale d'accidents vasculaires cérébraux.

BACKGROUND: The possibility of an association between two vascular anomalies, renal artery dysplasia and cerebral artery aneurysm, merits recognition. CASE REPORT: We report the case of a 63 year old woman who was found to have fibromuscular dysplasia affecting the right renal artery while being investigated for systemic hypertension. Given a family history of cerebrovascular accident occurring before the age of 50, a cerebral angiogram was performed which demonstrated a saccular aneurysm of the middle cerebral artery measuring 6 mm in diameter. DISCUSSION: The association of these two anomalies could result from a familial arterial fibromuscular dysplasia. There are practical implications, notably the risk of aneurysm rupture and the role of hypertension.

Case report: 17 alpha-hydroxylase/17,20-lyase deficiency: a rare cause of endocrine hypertension.

The combination of hypertension, hypokaliemia, and male pseudohermaphroditism or amenorrhea must prompt a search for a rare adrenal enzymatic defect, 17 alpha-hydroxylase/17,20-lyase deficiency. This is a report of the observation of a male patient in whom this rare deficit was diagnosed in adulthood on the basis of lifelong ambiguous external genitalia, hypogonadism, severe hypertension, bilateral adrenal hyperplasia, and biological markers evoking an excess of mineralocorticoids without hyperaldosteronism.

Simultaneous 24-hour monitoring of intraocular pressure and arterial blood pressure in patients with progressive and non-progressive primary open-angle glaucoma.

We measured and compared diurnal and nocturnal blood pressure (BP) with the Space Labs Holter in progressive and non-progressive glaucomatous patients with a satisfactory diurnal control of IOP in order to identify any link between a progressive worsening of their visual field (VF) defects and the characteristics of their nocturnal BP "dip". Ambulatory 24-hour BP monitoring and inpatient IOP curves were done on two consecutive days on 36 patients (17 women, 19 men, mean age 67.44 +/- 8.06 years) with moderate to severe POAG and good diurnal therapeutic control of IOP (daytime IOP < or = 21 mm Hg). Depending on the stability or progression of their VF defects during the last two years, the patients were classified in two groups: the progressive group comprised 24 patients (14 women, 10 men) and the stable group 12 patients (9 men, 3 women). We compared local and systemic risk factors for POAG, mean and maximum daytime and nighttime IOP in each group. The mean systolic and diastolic daytime BP, mean systolic and diastolic nighttime BP and the nocturnal systolic and diastolic BP dip were calculated for each patient. The distribution of these parameters was then statistically compared with normal reference values and for the two groups. The groups were closely comparable as regards their IOP 24-hour profile. The overall mean daytime, nighttime, and nocturnal dips fell within the normal range of the reference population. We found a significanty smaller systolic and diastolic BP dip in the progressive group and a broader distribution of the lower values both for systolic and diastolyc BP in the progressive group. A broader distribution of the lower values for systolic and diastolic BP dip was also noticed when progressive patients were compared with the reference population. The relative absence of a nocturnal BP dip may be interpreted as another disturbing factor in the self-regulatory mechanisms of the optic nerve head in glaucoma.

Large vessel vasculitis without temporal artery involvement: isolated form of giant cell arteritis?

Diffuse arterial involvement in giant cell arteritis (GCA) is well recognized. By contrast, GCA clinically isolated to large vessels without cephalic, rheumatologic or systemic symptoms represents a much rarer manifestation of the disease. We report the cases of 4 elderly women presenting with a diffuse and symptomatic occlusive disease without the typical signs of temporal arteritis, in whom biological, angiographic or pathological findings were suggestive of GCA. Medium to high dose oral corticosteroids were given to the 4 patients, in combination with various revascularization procedures, allowing a fair clinical response. Large vessel arteritis should be considered in elderly women with diffuse non-atherosclerotic occlusive disease and elevated erythrocyte sedimentation rate, even if typical features of GCA are lacking. In those cases, a long-term treatment with corticosteroids is mandatory, but surgical or angioplastic revascularization is often required.

[Hyperaldosteronism suppressible by glucocorticoids. An unusual cause of familial hypertension]. / L'hyperaldostéronisme freinable par les glucocorticoïdes. Une cause rare d'hypertension familiale.

The glucocorticoid suppressible hyperaldosteronism (GSH) is a rare form of systemic hypertension. We report a family--a father and his two children--with this disease. GSH represents a peculiar form of primary hyperaldosteronism, with usually an absence of increase of aldosterone in response to upright posture, a sustained responsiveness of aldosterone to prolonged ACTH stimulation and high levels of two steroids, the 18-hydroxy- and the 18-oxocortisol. But the two main features of GSH which distinguish it from other causes of hyperaldosteronism are the prompt reversal of the features of mineralocorticoids excess by glucocorticoid therapy and the autosomal dominant mode of inheritance. Recent studies demonstrate that this disorder is caused by an abnormal structure of the aldosterone synthase gene. Treatment by glucocorticoid (usually 0.30 to 0.75 mg dexamethasone daily) can reverse hypertension and hypokaliemia.

Chinese herbs nephropathy: a clue to Balkan endemic nephropathy?

Rapidly progressive interstitial renal fibrosis has recently been reported in young women who have been on a slimming regimen including Chinese herbs. We examined four nephroureterectomies performed in three patients prior to or at the time of transplantation to determine the nature and topography of the kidney and urinary tract lesions in Chinese herbs nephropathy (CHN). Extensive, hypocellular, interstitial sclerosis, tubular atrophy and global sclerosis of glomeruli decreasing from the outer to the inner cortex, including the columns of Bertin, were observed in the four kidney specimens, together with severe fibromucoid to fibrous intimal thickening, mainly of interlobular arteries, normal or collapsed residual glomeruli, and mild to moderate atypia and atypical hyperplasia of the urothelium. In addition, bilateral pelvi-ureteric sclerosis was observed in one case. With the exception of the latter, these lesions are very similar to those described in Balkan endemic nephropathy (BEN). The clinical presentation of the patients was also similar to that observed in BEN: normal blood pressure, aseptic leukocyturia, low grade low molecular weight proteinuria, early and severe anemia. In conclusion, on morphological and clinical grounds, CHN appears similar to BEN. A common etiologic agent, aristolochic acid, is suspected. The known carcinogenic potential of this compound, taken together with our finding of multiple foci of cellular atypia of the urothelium suggest that CHN patients should undergo a regular follow-up for urothelial malignancy.

[Severe hypertension and renal infarct. Physiopathology and treatment. Apropos of 1 case]. / Hypertension sévère et infarctus rénal. Physiopathologie et traitement. A propos d'un cas.

Renal infarction can be complicated by arterial hypertension, which is sometimes severe and may present as hypertensive encephalopathy and epilepsy. We report such a case in whom angiographic studies revealed a stenosis of the left renal artery and a post-stenotic aneurysmal dilation, containing a large thrombus with distal embolization. Thrombolysis associated with angioplasty resulted in the disappearance of the thrombus and correction of the stenosis. The pathophysiology of hypertension secondary to renal infarction is discussed. Therapeutic modalities are reviewed.

An unusual cause of factitious mineralocorticoid excess.

The presence of hypokalaemia in hypertensive patient must prompt a search for increased mineralocorticoid activity. We describe and discuss the observation of a patient with biological markers of hypermineralocorticoidism, despite low plasma and urinary aldosterone levels, and suppressed plasma renin activity. This typical syndrome of apparent mineralocorticoid excess was secondary, in our patient, to prolonged administration of a mineralocorticoid-containing nasal spray.

Mineralocorticoids in the management of primary adrenocortical insufficiency.

Plasma renin activity (PRA) and plasma volume (PV) were determined in 22 adult patients treated for Addison's disease (AD) and reporting at the clinic for follow-up. Mean PRA was thrice the upper limit of normal (9.1 +/- 7.1 ng/ml/h (SD)) and mean PV was decreased (87% +/- 11 (SD)), consistent with residual hypovolemia in most patients, despite conventional treatment with both fluorocortisol (FF) and cortisone acetate. There was an inverse relationship between PRA and PV. Both PRA and PV were significantly correlated with FF dosage. On the other hand, no correlation was found between PV and either systolic or diastolic blood pressure (BP), while PRA was significantly correlated with systolic but not diastolic BP. Four patients were persistently hypertensive (diastolic BP greater than 100 mmHg) with elevated PRA in 3, associated with a definitely low PV in two cases. Two of these patients were progressively taken off FF, so as to control BP. Thus, in view of the not infrequent occurrence of arterial hypertension in AD patient on conventional treatment, we would warn against attempts at normalizing PV and PRA by means of FF, irrespective of BP in asymptomatic cases. In fact, when hypertension develops, reduction or sometimes withdrawal of FF may be recommended as a first therapeutic step.

The effect of membrane characteristics on tumour necrosis factor kinetics during haemodialysis.

We measured serum beta 2-M and TNF alpha before and after a 4-h haemodialysis performed on two membranes with different characteristics, either cuprophane (n = 40) or polyacrylonitrile (AN69) (n = 31). Kinetic studies including determinations at 0, 15, 30, 60 and 240 min were also performed during haemodialysis sessions on cuprophane (n = 14) and AN69 (n = 12). After a 240-min haemodialysis, TNF alpha increased on cuprophane (21.95 +/- 3.46 to 37.20 +/- 4.60 pg/ml, P less than 0.001) but remained stable on AN69 (16.70 +/- 2.60 to 19.90 +/- 2.90 pg/ml, NS). Kinetic studies revealed that on cuprophane, beta 2-M increased progressively from 40.72 +/- 4.41 to 45.71 +/- 4.77 mg/l (P less than 0.001) at 240 min with a significant increase already noted at 60 min. TNF alpha remained stable during the first 60 min but increased significantly at 240 min (34.14 +/- 6.60 to 49.71 +/- 8.78 pg/ml, P less than 0.001). The percentage increment in TNF alpha (50.5%) was significantly greater at 240 min than the percentage increment in beta 2-M (13.4%), a finding suggestive of net generation of TNF alpha. On AN69, beta 2-M decreased progressively from 31.82 +/- 2.70 to 27.30 +/- 2.26 mg/l (P less than 0.001). TNF alpha decreased transiently at 15 min but returned subsequently to control values (0 and 240 min: 25.00 +/- 3.81 and 29.75 +/- 3.59 pg/ml respectively, NS). Our data suggest a net release of TNF alpha during cuprophane but not during polyacrylonitrile haemodialysis. This release might play a role in the stimulation of beta 2-M production and thus in the genesis of dialysis amyloidosis.

Late recurrence of operated adrenocortical carcinoma: atrial natriuretic factor before and after treatment with mitotane.

A 62-year-old man arrived at our hospital with recurrence of Cushing's syndrome 14 years after successful surgery for adrenocortical carcinoma. Investigations demonstrated recurrence of a large tumor above the right adrenal area; it was found to be inoperable. The patient was treated initially with a new glucocorticoid antagonist, RU 486, and later with the adrenolytic agent mitotane (o,p'DDD). The latter achieved hypoadrenocorticism and a substantial reduction of tumor size. During the initial period, worsening hyperadrenocorticism resulted in a rise of atrial natriuretic factor and an inhibition of renin activity, consistent with an increase of cortisol and plasma volume. Changes in opposite direction were observed after treatment with mitotane.