Malignant hypertension in a patient with Turner syndrome: A case report.

RATIONALE: Turner syndrome is characterized by complete or partial loss of the second sex chromosome. In patients with Turner syndrome, hypertension is well described. However, the literature regarding malignant hypertension is scarce. Therefore, an accurate and timely diagnosis and treatment are important. PATIENT CONCERNS: A 13-year-old female with Turner syndrome presented to the emergency department with malignant hypertension, headache, spraying vomiting, convulsion, and loss of consciousness. Considering her medical history, symptoms, and auxiliary examination, secondary hypertension (primary reninism) was suspected, but without any occupying or hyperplasia in renal and adrenal. DIAGNOSIS: A type of secondary hypertension, primary reninism. INTERVENTIONS: The patient was immediately transferred to the pediatric intensive care unit. Subsequently, she was given nifedipine 0.35 mg/kg and captopril 0.35mg/kg to reduce blood pressure (BP), mannitol and furosemide to reduce cranial pressure, and phenobarbital and midazolam to terminate restlessness successively. Three hours later, the BP was consistently higher than 170/120 mm Hg, sodium nitroprusside was pumped intravenously, then, giving oral drug transition. Finally, she was given Valsartan-Amlodipine Tablets (I) (80 mg valsartan and 5 mg amlodipine per day) and bisoprolol (2.5 mg per day). OUTCOMES: For 2.5 years of follow-up, the BP reduced to 110-130/60-85 mm Hg, heart rate ranged between 65 and 80 bpm, and she could go to school without any headache, convulsion, and syncope. LESSONS: The clinical phenotype of Turner syndrome is complex and varied, affecting multiple systems and organs. Turner syndrome with malignant hypertension is rare, so we should systematically evaluate secondary hypertension, target-organ damage, and accompanied by standard management when Turner syndrome presents with hypertension.

Case presentation: a severe case of cobalamin c deficiency presenting with nephrotic syndrome, malignant hypertension and hemolytic anemia.

BACKGROUND: The etiology of nephrotic syndrome can vary, with underlying metabolic diseases being a potential factor. Cobalamin C (cblC) defect is an autosomal recessive inborn error of metabolism caused by mutations in the MMACHC gene, resulting in impaired vitamin B12 processing. While cblC defect typically manifests with hematological and neurological symptoms, renal involvement is increasingly recognized but remains rare. CASE PRESENTATION: We describe a 7-month-old male patient presenting with fatigue and edema. His first laboratory findings showed anemia, thrombocytopenia, hypoalbuminemia and proteinuria and further examinations reveals hemolysis in peripheric blood smear. During his follow up respiratory distress due to pleural effusion in the right hemithorax was noticed. And fluid leakage to the third spaces supported nephrotic syndrome diagnosis. The patient's condition deteriorated, leading to intensive care admission due to, hypertensive crisis, and respiratory distress. High total plasma homocysteine and low methionine levels raised suspicion of cobalamin metabolism disorders. Genetic testing confirmed biallelic MMACHC gene mutations, establishing the diagnosis of cblC defect. Treatment with hydroxycobalamin, folic acid, and betaine led to remarkable clinical improvement. DISCUSSION/CONCLUSION: This case underscores the significance of recognizing metabolic disorders like cblC defect in atypical presentations of nephrotic syndrome. Early diagnosis and comprehensive management are vital to prevent irreversible renal damage. While cblC defects are more commonly associated with atypical hemolytic uremic syndrome, this case highlights the importance of considering cobalamin defects in the differential diagnosis of nephrotic syndrome, especially when associated with accompanying findings such as hemolysis. Our case, which has one of the highest homocysteine levels reported in the literature, emphasizes this situation again.

Pulmonary renal syndrome secondary to malignant hypertension.

A man in his early 30s presented with sudden-onset respiratory distress, haemoptysis and reduced urine output. He was in volume overload with a blood pressure recording of 240/180 mm Hg. Pulmonary renal syndrome was suspected and he was initiated on plasmapheresis, followed by steroid pulse therapy. Chest radiography and the presence of fragmented red cells on the peripheral smear were unexplained. These were later explained by hypertensive nephropathy and thrombotic microangiopathy changes on renal biopsy. His respiratory and haematological parameters improved with blood pressure control. Malignant hypertension closely resembles pulmonary renal syndrome, which must be remembered in order to avoid plasmapheresis and high-dose immunosuppressive therapy.

Non-arteritic anterior ischemic optic neuropathy as the only manifestation of a malignant hypertensive crisis: Report of a case.

Non-arteritic anterior ischemic optic neuropathy (NAION) is after glaucoma the most common optic neuropathy in patients over 50 years. It is known that high blood pressure (HBP) is an important risk factor for the development of NAION. It is also known that malignant arterial hypertension (MAH) could be accompanied by optic disc edema. However, MAH has not classically been considered a cause of NAION. We report the case of a 32-year-old patient who presented irreversible visual loss with a pattern compatible with NAION as the only manifestation of a hypertensive crisis.

Malignant Hypertension:A Systemic Cardiovascular Disease: JACC Review Topic of the Week.

Malignant hypertension (MHT) is a hypertensive emergency with excessive blood pressure (BP) elevation and accelerated disease progression. MHT is characterized by acute microvascular damage and autoregulation failure affecting the retina, brain, heart, kidney, and vascular tree. BP must be lowered within hours to mitigate patient risk. Both absolute BP levels and the pace of BP rise determine risk of target-organ damage. Nonadherence to the antihypertensive regimen remains the most common cause for MHT, although antiangiogenic and immunosuppressant therapy can also trigger hypertensive emergencies. Depending on the clinical presentation, parenteral or oral therapy can be used to initiate BP lowering. Evidence-based outcome data are spotty or lacking in MHT. With effective treatment, the prognosis for MHT has improved; however, patients remain at high risk of adverse cardiovascular and kidney outcomes. In this review, we summarize current viewpoints on the epidemiology, pathogenesis, and management of MHT; highlight research gaps; and propose strategies to improve outcomes.

A multi-centre case series of patients with coexistent intracranial hypertension and malignant arterial hypertension.

OBJECTIVE: To describe the clinical characteristics, outcomes, and management of a large cohort of patients with concomitant malignant arterial hypertension and intracranial hypertension. METHODS: Design: Retrospective case series. SUBJECTS: Patients aged ≥ 18 years with bilateral optic disc oedema (ODE), malignant arterial hypertension and intracranial hypertension at five academic institutions. Patient demographics, clinical characteristics, diagnostic studies, and management were collected. RESULTS: Nineteen patients (58% female, 63% Black) were included. Median age was 35 years; body mass index (BMI) was 30 kg/m2. Fourteen (74%) patients had pre-existing hypertension. The most common presenting symptom was blurred vision (89%). Median blood pressure (BP) was 220 mmHg systolic (IQR 199-231.5 mmHg) and 130 mmHg diastolic (IQR 116-136 mmHg) mmHg), and median lumbar puncture opening pressure was 36.5 cmH2O. All patients received treatment for arterial hypertension. Seventeen (89%) patients received medical treatment for raised intracranial pressure, while six (30%) patients underwent a surgical intervention. There was significant improvement in ODE, peripapillary retinal nerve fibre layer thickness, and visual field in the worst eye (p < 0.05). Considering the worst eye, 9 (47%) presented with acuity ≥ 20/25, while 5 (26%) presented with ≤ 20/200. Overall, 7 patients maintained ≥ 20/25 acuity or better, 6 demonstrated improvement, and 5 demonstrated worsening. CONCLUSIONS: Papilloedema and malignant arterial hypertension can occur simultaneously with potentially greater risk for severe visual loss. Clinicians should consider a workup for papilloedema among patients with significantly elevated blood pressure and bilateral optic disc oedema.

Atypical presentation of malignant hypertension.

A woman in her 30s presented with complaints of sudden onset of defective vision in the right eye for 2 days, with history of headache for a month. On examination, best corrected visual acuity was 20/40 in the right eye and 20/20 in the left eye. Anterior segment examination was normal. Fundus examination of both the eyes showed generalised arteriolar attenuation with diffuse, hyperaemic disc oedema and serous retinal detachment at macula in the right eye. Her blood pressure (BP) was 230/140 mm Hg. Other systemic evaluation was unremarkable. In the review visit, patient's BP reduced to 140/100 mm Hg, and visual acuity in the right eye improved to 20/20. Fundus in the right eye showed resolving disc oedema with macular star formation, and the left eye had developed soft exudates. This seemed to confirm the diagnosis of the disc oedema being caused by hypertension and a highly asymmetrical presentation of hypertensive retinopathy.

Management of hypertensive crisis in a patient with underlying kidney disease: A case report.

RATIONALE: This case report elucidates the management of a hypertensive crisis in a patient with underlying kidney disease, shedding light on the intricate interplay between these conditions. This unique case contributes valuable insights to the scientific literature. PATIENT CONCERNS: The patient exhibited severe headache, visual disturbances, and chest pain. Clinical evaluation revealed elevated blood pressure and impaired kidney function, emphasizing the importance of monitoring hypertension and renal health in such cases. DIAGNOSES AND INTERVENTIONS: The primary diagnoses included malignant hypertension and underlying kidney disease. Immediate interventions comprised intravenous antihypertensive agents and rigorous hemodynamic monitoring, yielding favorable outcomes. Blood pressure gradually returned to acceptable levels, and renal function improved during treatment. CONCLUSIONS: This case underscores the critical need for timely recognition and management of hypertensive crises in patients with preexisting kidney dysfunction. Simultaneously addressing both conditions is vital for successful outcomes. Healthcare practitioners must remain vigilant in assessing the intricate relationship between hypertension and kidney disease, employing tailored interventions for optimal results. LESSON LEARNED: The primary lesson from this case is the necessity of a comprehensive approach to managing hypertensive crises in individuals with underlying kidney disease. Early intervention and a multidisciplinary strategy are essential to achieve positive clinical outcomes and prevent potential complications.

Unilateral hypertensive choroidopathy as a sole manifestation in malignant hypertension: optical coherence tomography angiography findings-case report.

BACKGROUND: We present a case of hypertensive choroidopathy due to malignant hypertension with exudative retinal detachment as a sole finding. We use OCT- angiography for initial diagnosis and report findings from extensive follow up. CASE PRESENTATION: A 51-year-old female with no past medical history, presented to our clinic with painless loss of vision in her left eye. Fundus examination revealed only exudative retinal detachment in her left eye that was confirmed with Optical Coherence Tomography. Fluorescein angiography showed hyperfluorescent spots with leakage in late phases. OCTA manifested a focal dark area in the choriocapillaris slab corresponding to flow signal voids, signifying regions of non-perfusion. Her blood pressure was 220/120 mmHG. Complete blood work -up failed to reveal any other possible etiology. During follow-up period of 9 months blood pressure normalized, patient regained visual function and choriocapillaris perfusion was completely restored. DISCUSSIONS AND CONCLUSIONS: Hypertensive choroidopathy with exudative retinal detachment can be the only sign of malignant hypertension and no pre-existing history of a systemic disease is required in order to become apparent. OCTA reveals areas of non-perfusion at choriocapillaris level, proving that it is an essential tool in the diagnosis and follow up of patients with hypertensive choroidopathy. Finally, we propose that early diagnosis prevents permanent damage of the RPE and leads to complete choroidal remodeling and better visual outcomes.

Malignant Hypertension and Bilateral Primary Aldosteronism.

Malignant hypertension triggers incremental renin activity, whereas primary aldosteronism suppresses such activity. We encountered a patient with malignant hypertension refractory to multiple anti-hypertensive agents. Repeated neurohormonal assessments, instead of a single one, eventually uncovered trends in an incremental aldosterone concentration, ranging from 221 up to 468 pg/mL, with a decline in the renin activity from 2.3 to <0.2 ng/mL/h. Adrenal venous sampling confirmed bilateral aldosterone secretion. Following the diagnosis of bilateral primary aldosteronism, we initiated a mineralocorticoid receptor antagonist, which improved his blood pressure. Repeated neurohormonal assessments are encouraged to correctly diagnose underlying primary aldosteronism with malignant hypertension.

Thrombotic microangiopathy in patients with malignant hypertension.

BACKGROUND: Thrombotic microangiopathy (TMA) is a complication of malignant hypertension (mHTN) attributed to high blood pressure (BP). However, no studies have investigated in patients with mHTN of different aetiologies whether the presence of TMA is associated with specific causes of mHTN. METHODS: We investigated the presence of TMA (microangiopathic haemolytic anaemia and thrombocytopenia) in a large and well-characterized cohort of 199 patients with mHTN of different aetiologies [primary HTN 44%, glomerular diseases 16.6%, primary atypical haemolytic uraemic syndrome (aHUS) 13.1%, renovascular HTN 9.5%, drug-related HTN 7%, systemic diseases 5.5%, endocrine diseases 4.5%]. Outcomes of the study were kidney recovery and kidney failure. RESULTS: Patients with TMA [40 cases (20.1%)] were younger, were more likely female and had lower BP levels and worse kidney function at presentation. Their underlying diseases were primary aHUS (60%), drug-related mHTN (15%), glomerular diseases [all of them immunoglobulin A nephropathy (IgAN); 10%], systemic diseases (10%) and primary HTN (5%). The presence of TMA was 92.3% in primary aHUS, 42.9% in drug-related HTN, 36.4% in systemic diseases, 12.1% in glomerular diseases and 2.3% in primary HTN. No patient with renovascular HTN or mHTN caused by endocrine diseases developed TMA, despite BP levels as high as patients with TMA. A higher proportion of TMA patients developed kidney failure as compared with patients without TMA (56.4% versus 38.9%, respectively). CONCLUSIONS: The presence of TMA in patients with mHTN should guide the diagnosis towards primary aHUS, drug-related mHTN, some systemic diseases and IgAN, while it is exceptional in other causes of mHTN.

Nephrosclerosis in young patients with malignant hypertension.

BACKGROUND: Nephrosclerosis is one of the histopathological consequences of severe or malignant hypertension (MH), some of the pathophysiology of which has been extrapolated from essential polygenetic arterial hypertension. Despite our recent description of unsuspected ciliopathies with MH, causes of MH in young patients with severe renal impairment are poorly understood. METHODS: To refine and better describe the MH phenotype, we studied clinical and prognostic factors in young patients receiving a kidney biopsy following their first episode of MH. Patients were identified retrospectively and prospectively from eight centres over a 35-year period (1985-2020). Keywords were used to retrospectively enrol patients irrespective of lesions found on renal biopsy. RESULTS: A total of 114 patients were included, 77 (67%) of whom were men, average age 34 years, 35% Caucasian and 34% African origin. An isolated clinical diagnosis of severe nephrosclerosis was suggested in only 52% of cases, with 24% primary glomerulopathies. Only 7% of patients had normal renal function at diagnosis, 25% required emergency dialysis and 21% were eventually transplanted. Mortality was 1% at the last follow-up. Independent prognostic factors significantly associated with renal prognosis (6-month dialysis) and predictive of end-stage renal disease were serum creatinine on admission {odds ratio [OR] 1.56 [95% confidence interval (CI) 1.34-1.96], P < .001} and renal fibrosis >30% [OR 10.70 (95% CI 1.53-112.03), P = .03]. Astonishingly, the presence of any thrombotic microangiopathy lesion on renal biopsy was an independent, protective factor [OR 0.14 (95% CI 0.02-0.60), P = .01]. The histopathological hallmark of nephrosclerosis was found alone in only 52% of study patients, regardless of ethnicity. CONCLUSIONS: This suggests that kidney biopsy might be beneficial in young patients with MH.

Renal arteriovenous fistula complicated with malignant hypertension: a case report.

Renal arteriovenous fistula (RAVF) is a rare vascular disease and is usually presented with severe hypertension. Renin-angiotensin-aldosterone system (RAAS) activation was proposed to play a key role in RAVF-induced hypertension but the data was inconsistent. We reported a case of RAVF presented as malignant hypertension, which was detected by contrast-enhanced ultrasonography and successfully managed by interventional embolization. A 35-year-old male was presented with a headache and blurred vision. His blood pressure was up to 220/110 mmHg, with significantly elevated serum creatinine and proteinuria. Hypertensive target organ impairments were noted. A RAVF was detected by contrast-enhanced renal ultrasonography. He underwent renal artery angiography and renal arteriovenous fistula embolization. RAAS activation was also evaluated by separate renal vein sampling. The patient's blood pressure and target-organ damage improved after RAVF embolization and blood pressure control. This is a rare case of renal arteriovenous fistula with malignant hypertension. Contrast-enhanced ultrasonography can be useful for diagnosis.