High blood pressure due to aortic coarctation and renal artery stenosis in a teenager with type 1 neurofibromatosis

Hypertension affect about 1% of patients with neurofibromatosis type 1 (NF1). Major causes are concomitant pheocromocytoma in adults and renovascular hypertension in children. In most cases, NF1 is associated with renal artery stenosis, smooth cell proliferation and advential fibrosis. We describe a 16 year old girl with hypertension complicating NF1 secondary to severe coarctation of abdominal aorta and tight stenosis of right renal artery, a very uncommon case. She was first diagnosed when she was 3-years-old and managed with antihypertensive drugs (atenolol, hidralazine and nifedipine); she experienced progressive uncontrollable hypertension but no symptoms, thus she was admitted to repeat studies. Laboratory evaluation (including creatinine, serum electrolytes, urinalysis, urine catecholamines and creatinine clearance) was normal Percutaneous transfemoral magnetic resonance angiography disclosed severe coarctation of abdominal aorta, functional occlusion of superior mesenteric artery and tight stenosis of right renal artery with poststenotic dilatation. Patient underwent surgery with aorto-aortic by-pass and right kidney artery reimplantation. Periodical controls confirmed no hypertension, even four years after surgery and normal flow patterns in Doppler ultrasonography. Patients with NF1 must be screened for pheochromoctyoma and renovascular hypertension. If hypertension appears, careful management is mandatory, as periodical follow-up even after surgery, since the long-term recurrence rate of renovascular lesions is not well established.     

A case of neurofibromatosis type 1 with an aldosterone-producing adenoma of the adrenal

Neurofibromatosis type 1 is a phacomatosis. Neurofibromas are the most common tumours associated with the disease, and along with other tumours, make neurofibromatosis type 1 the most common tumour predisposing syndrome in humans. Hypertension may be coincidental, but at least two specific neurofibromatosis related causes must be considered, namely neurofibromatous involvement of the renal artery and pheochromocytoma. We have described the first known case of a patient with neurofibromatosis type 1 who developed hypertension due to an aldosterone-producing adenoma of the adrenal. The question of whether this association was coincidental or due to the tumour predisposition of neurofibromatosis type 1 was debated.     

Von Recklinghausen's vasculopathy

Vasculopathy in the syndrome of Von Recklinghausen's neurofibromatosis is a well known but clinically underestimated phenomenon. Its manifestations have included renovascular hypertension, occlusive cerebrovascular disease and visceral ischemia. The progressive arterial disease may involve small vessels on a regular basis and large vessels in a variety of angiographic patterns. A young neurofibromatosis patient is described with an aneurysm of the superior mesenteric artery complicating renovascular hypertension associated with aortic coarctation and renal artery stenosis. This unique angiographic demonstration illustrates the therapeutic dilemmas posed by the vascular disease associated with Von Recklinghausen's neurofibromatosis.     

Epidemiology of Secondary Hypertension in Children

Secondary hypertension is more common in children compared with adults who predominantly have primary hypertension. Young age, severe hypertension, family history, and signs and symptoms of syndromes associated with hypertension are suggestive of an underlying secondary cause for elevated BP. Secondary hypertension is associated with more severe elevation in BP and, hence, early and prompt diagnosis with treatment addressing the underlying cause is needed for such patients. Renal conditions are the commonest cause of secondary hypertension in children and include chronic kidney injury, acute nephritic syndromes, renal artery stenosis, and renal scarring. Hypertension is also seen in association with Williams syndrome, neurofibromatosis, and others in association with renal vessel abnormalities. Iatrogenic steroid use for various conditions is one of the most common causes for hypertension in children. Other endocrine conditions associated with hypertension include catecholamine producing tumors (pheochromocytoma), corticoid hormone disorders (Cushing’s syndrome and disease, hyperaldosteronisn, congenital adrenal hyperplasia), and hyperthyroidism. Genetic forms of hypertension are rare but should be suspected in patients with early onset of elevated BP, young family members with hypertension and associated electrolyte abnormalities of alkalosis and hypokalemia.     

Congenital solitary kidney with renovascular hypertension diagnosed by means of captopril-enhanced renography and magnetic resonance angiography

A 24 year-old woman had a congenital solitary kidney with renovascular hypertension due to fibromuscular dysplasia. She had been treated as having essential hypertension until she developed preeclampsia and HELLP (hemolysis, elevated liver enzymes, and low platelet count) syndrome at 28 weeks of gestation. Plasma renin activity and captopril test results did not indicate any abnormalities. However, renography revealed captopril-induced deterioration. Magnetic resonance angiography was also useful to detect renal artery stenosis. These findings were confirmed by renal angiography. After successful percutaneous transluminal renal angioplasty, her blood pressure and the pattern of captopril renography normalized.     

An XXX female with essential thrombocythemia

We describe an XXX female patient accompanied with essential thrombocythemia. To our knowledge this is the first case ever to have been reported. The patient was asymptomatic, but her platelet count had increased to 111.2 x 10(4)/microliter, and she was diagnosed as having essential thrombocythemia based on the diagnostic criteria of the Polycythemia Vera Study Group. At the same time, chromosome analysis of bone marrow cells revealed that she was an XXX female. The patient remained asymptomatic throughout the course of treatment.     

Mid-Aortic Syndrome in a 3-Year-Old Girl Successfully Treated by Aorto�CAortic Grafting and Renal Artery Implantation into the Graft

Mid-aortic syndrome, an uncommon acquired or congenital condition characterized by segmental narrowing of the abdominal or distal descending thoracic aorta, is frequently accompanied by ostial stenosis of the aorta''s branches. If left untreated, it can result in life-threatening complications secondary to severe hypertension.We report the case of a 3-year-old girl with congenital mid-aortic syndrome, who was diagnosed by chance in the course of a viral illness, and whose high blood pressure values were first dismissed as inaccurate. Attempts to achieve medical or endovascular control of her hypertension were unsuccessful. She was thereafter successfully treated by aorto–aortic bypass grafting, resection of the stenotic segments of both renal arteries, and implantation of the patent arterial segments into the graft.Key words: Angioplasty, balloon; aorta, abdominal/abnormalities; aortic coarctation/etiology/surgery; arterial occlusive diseases/surgery; child; hypertension, renal/etiology/surgery; mid-aortic syndrome; reconstructive surgical procedures/methods; renal artery obstruction/surgeryMid-aortic syndrome, an uncommon condition characterized by segmental narrowing of the abdominal or distal descending thoracic aorta, is frequently accompanied by ostial stenosis of its branches.^1–5 It can be acquired or congenital. Acquired causes of mid-aortic syndrome include neurofibromatosis, fibromuscular dysplasia, retroperitoneal fibrosis, Williams syndrome, mucopolysaccharidosis, giant cell arteritis (Takayasu disease, temporal arteritis), and acquired insults in utero or in early life that result in developmental disorders of the growing aorta.^1–13 Congenital mid-aortic syndrome is caused by a developmental anomaly in the fusion and maturation of the paired embryonic dorsal aortas and typically manifests itself in young patients.^6,14–19 We report the case of a 3-year-old girl with congenital mid-aortic syndrome, who was diagnosed by chance in the course of a viral illness and in whom high blood pressure values had at first been dismissed as inaccurate. Attempts to achieve medical or endovascular control of her hypertension were unsuccessful, so she was treated surgically.     

Unusual circadian hypertension associated with polydipsia

A 76 year old female patient with chronic polydipsia and abnormal circadian blood pressure oscillations with periodic daily hypertension in the afternoon despite antihypertensive treatment is described. The abnormal diurnal blood pressure rise spontaneously disappeared when her daily drinking volume was reduced to normal. She began voluntary polydipsia after an episode of painful urolithiasis 12 years ago when she was advised to maintain a high daily fluid intake to prevent a relapse. During clinical workup, no other etiologic factor could be detected to explain the high diurnal blood pressure changes. Four years earlier, she had suffered an ischemic stroke in the vertebrobasilar territory caused by cerebral microangiopathy. She showed mild renal insufficiency, a residual neurologic syndrome after stroke and hypertensive heart disease with normal left ventricular ejection fraction. Plasma Na and other electrolytes were normal. A renal ultrasound exam was unremarkable and excluded renal artery stenosis. Extended laboratory investigations including plasma and urinary glucocorticoids, mineralocorticoids, metanephrins, thyroid function tests and the plasma aldosterone/renin ratio were also normal. We discuss abnormal control of volume homeostasis by hormonal and renal mechanisms and abnormal central blood pressure regulation following brain stem infarction as potential causal mechanisms to explain the association of polydipsia with the recurrent diurnal hypertension in our patient. Although chronic polydipsia may be rare, it may occasionally be a modifiable cause contributing to blood pressure elevations and treatment resistance of hypertension particularly when volume handling is impaired by concomitant disease.     

Spontaneous remission of the nephrotic syndrome in diabetic nephropathy

A 28 year old woman, with diabetes since age 18, had the nephrotic syndrome, hypertension and renal insufficiency. The initial renal biopsy specimen revealed diffuse glomerulosclerosis with early nodular changes. After an initial decline in renal function, her creatinine clearance progressively improved and has remained normal. Within 2 years she had a spontaneous remission of the nephrotic syndrome despite the presence of more pronounced nodular glomerular lesions. Although the renal hemodynamic functions were normal, certain tubular functions were impaired. Since we found no etiology for the nephrotic syndrome other than diabetic glomerulopathy, the complete remission of the nephrotic syndrome and improvement in renal function were very unusual events.     

Reversible posterior leukoencephalopathy syndrome: a possible manifestation of Wegener’s granulomatosis-mediated endothelial injury

We present the case of a 15-year-old girl who had Wegener's granulomatosis with severe intestinal involvement. During the clinical course, she developed generalized seizures and was diagnosed with reversible posterior leukoencephalopathy syndrome (RPLS). Plasma exchange combined with steroid pulse therapy was initiated and showed marked improvement. This is one of the few cases of RPLS without severe hypertension or renal failure, suggesting that RPLS is likely to be a manifestation of Wegener's granulomatosis-mediated endothelial injury.     

Renovaascular hypertension and Von Recklinghausen neurofibromatosis

This clinical case illustrates the diagnosis of a secondary cause of hypertension in a patient with Von Recklinghausen's disease. The hypertension resulted from a complex malformation of the right renal artery and dysplasic stenosis of the left inferior polar artery treated successfully by simple angioplasty. This case illustrates the high proportion of vascular (renal artery dysplasia, coarctation of the aorta) and endocrine (pheochromocytoma) causes of hypertension in patients with neurofibromatosis.     

Treatment of Neurofibromatosis Associated Renal Artery Stenosis with Hypertension by Percutaneous Transluminal Angioplasty

A 12 year old girl with severe arterial hypertension was found to have neurofibromatosis associated bilateral stenoses of the main renal arteries and elevated plasma renin activity in the right main renal vein. Antihypertensive treatment was unable to normalize blood pressure. PTA of the right renal artery from a left axillary approach resulted in normalization of blood pressure and peripheral plasma renin activity. PTA seems to be an effective and safe method for treatment even of complicated forms of renal artery stenosis.     

Reversible posterior leukoencephalopathy syndrome: a possible manifestation of Wegener’s granulomatosis-mediated endothelial injury

Abstract

We present the case of a 15-year-old girl who had Wegener’s granulomatosis with severe intestinal involvement. During the clinical course, she developed generalized seizures and was diagnosed with reversible posterior leukoencephalopathy syndrome (RPLS). Plasma exchange combined with steroid pulse therapy was initiated and showed marked improvement. This is one of the few cases of RPLS without severe hypertension or renal failure, suggesting that RPLS is likely to be a manifestation of Wegener’s granulomatosis-mediated endothelial injury.     

Takayasu's arteritis and posterior reversible encephalopathy syndrome: a case-based review

Autoimmune vasculitides can have diverse neurological manifestations, including posterior reversible encephalopathy syndrome (PRES). Takayasu's arteritis (TA) is an uncommon vasculitis rarely associated with PRES. Common clinical features of TA include hypertension, audible arterial bruits, absence of peripheral pulses, claudication of the extremities, reduced blood pressure in one or both arms, and angiographic abnormalities. PRES has been mostly associated with severe hypertension, endothelial injury, and conditions such as renal disease, immunosuppressive medication use, and rheumatologic diseases. Headaches, seizures, and altered mental status are the main clinical features as well as characteristic findings in magnetic resonance imaging. TA frequently presents with hypertension and is associated with endothelial injury, making this entity an ideal setting for the development of PRES. We report the case of a 17-year-old female who presented to the emergency department with severe hypertension, headache, and seizures. Magnetic resonance imaging findings were suggestive of PRES. She had absent pulses in the right upper extremity, abdominal bruits, and angiographic findings included subclavian and renal artery stenoses. The diagnosis of TA was made, and she responded well to treatment. We found ten additional cases of TA and PRES in the literature. All patients were females under the age of 40, had renovascular hypertension, and presented with headaches and seizures. Current literature relevant to this rare association is presented and discussed.     

Renal vein thrombosis and the nephrotic syndrome. Report of two cases with successful treatment of one

A nephrotic syndrome and bilateral renal vein thrombosis developed in two women. One suffered low back pain, the other oliguric renal failure. Both suffered pulmonary emboli and had exhibited edema, proteinuria and hypertension during pregnancies several years before. Results of thrombectomy and anticoagulant therapy were successful in one patient, although she suffered serious hemorrhage at the biopsy site during anticoagulant therapy. The other patient died of pulmonary embolism. Renal interstitial changes usually associated with renal vein thrombosis were found in both, but neither showed membranous nephropathy (membranous glomerulonephritis). This study suggests that (1) although membranous nephropathy is frequently associated with renal vein thrombosis, it is probably not the result of that condition nor invariably associated with it. (2) Prognosis in renal vein thrombosis with nephrotic syndrome may be partially dependent upon underlying renal disease. (3) Renal biopsy is useful for diagnosis and assaying prognosis. (4) Treatment should consist of thrombectomy and anticoagulants. However, serious hemorrhage may occur in patients recently subjected to biopsy.     

Percutaneous transluminal renal angioplasty in nonatherosclerotic renovascular hypertension. Long-term results

Nineteen stenotic arteries in 16 patients with severe renovascular hypertension of nonatherosclerotic nature (fibromuscular dysplasia in 13, neurofibromatosis in 3) were treated with percutaneous transluminal renal angioplasty. The procedure was technically successful in 12 of 14 (86%) stenoses in the fibromuscular dysplasia subgroup but in only one of five (20%) lesions in the neurofibromatosis subgroup. Hypertension was abated (3 patients) or disappeared (8 patients) in 11 of the 12 (92%) patients with fibromuscular dysplasia who had a technically successful angioplasty, an effect that was sustained at latest follow-up (avg, 37 mo; range, 10-73 mo). The only complication encountered was a retroperitoneal hematoma that resolved uneventfully. Coupled with those from other centers, the results of the present study indicate that angioplasty offers a strong potential for curability in patients with renovascular hypertension caused by fibromuscular dysplasia and that percutaneous transluminal renal angioplasty should be considered the treatment of choice for the initial management of all patients with fibromuscular renovascular hypertension.     

A case of nephrotic syndrome associated with renovascular hypertension successfully treated with candesartan.

A sixty eight-year-old man was referred to our hospital for evaluation of hypertension and hypokalemia. His chief complaints were fatigability and weakness of the lower extremities. Atrophy of the right kidney was noted on computed tomography. The laboratory findings demonstrated massive proteinuria, markedly elevated plasma renin activity, hypokalemia, and renal insufficiency. Angiography showed total occlusion of the right renal artery. The patient was diagnosed as having nephrotic syndrome associated with renovascular hypertension. Treatment with candesartan, an angiotensin-II-receptor blocker (ARB), controlled both hypertension and proteinuria satisfactorily without worsening of his renal function. This is the first report on the effect of ARB on nephrotic syndrome associated with renovascular hypertension. Based on the results, ARB can be considered a promising agent for the treatment of patients with renovascular hypertension with massive proteinuria and renal insufficiency.     

Percutaneous transluminal angioplasty of renal artery stenosis in a child with hypertensive heart disease.

A 1.5-year-old girl developed congestive heart failure 9 months after she presented with hypertension. The hypertension was caused by a renal artery stenosis. A short-segment stenosis at the ostium of the left renal artery was confirmed by arteriogram. After balloon angioplasty, the blood pressure and heart function returned to normal. Angioplasty had an excellent result of relieving hypertension and heart failure in this patient. Cathet. Cardiovasc. Intervent. 48:374-377, 1999.     

Membraneous glomerulonephritis and non-Hodgkin's lymphoma in a patient with primary Sjögren's syndrome

The most common renal manifestation of Sj?gren's syndrome is tubulointerstitial nephritis, and glomerular disease is rare (3). A 62-year-old woman with primary Sj?gren's syndrome developed nephrotic syndrome. Kidney biopsy was consistent with membraneous glomerulonephritis. Steroid pulse therapy was not effective. Three months later she was diagnosed with non-Hodgkin's lymphoma of the tongue, and she was given CHOP therapy and radiation. Both the lymphoma and membraneous glomerulonephritis were resolved.     

Diagnostic of secondary hypertension in clinical practice

Arterial hypertension is a common worldwide disease with a prevalence of approximately 26%. Secondary cause is known in 5-10% of patients with hypertension. We should think of secondary hypertension in all patients with resistant hypertension, in patients with sudden deterioration in the control of hypertension and in patients with laboratory and clinical signs of diseases associated with secondary hypertension. It is important to distinguish between secondary hypertension and pseudo-resistance (noncompliance to treatment, white coat syndrome). Secondary causes of hypertension can be divided into endocrine (primary aldosteronism, pheochromocytoma, hypercortisolism, hyperparathyreoidism), renal - renovascular and renal parenchymal hypertension, and other causes as sleep apnoe syndrome, hypertension in pregnancy, coarctation of the aorta and intracranial tumors.