Reversible MRI Findings of Porphyric Encephalopathy

Soysal, Aysun; Doğan, Pașa; Dayan, Colin; Çalışkan, Billur; Arpacı, Baki

doi:10.1177/197140090802100508

Cited by 9 publications

(15 citation statements)

References 9 publications

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“…22 This finding raises the question of the potential vascular toxicity of porphyrin precursors, which is highly probable given that ALA promotes vasoconstriction experimentally, 23,24 that abdominal symptoms are thought to be related, at least in part, to gut ischemia, 25 that brain autopsies of AIP patients who died during crisis indicate the existence of multiple small infarcts, 26,27 and that AIP attacks may cause posterior reversible encephalopathy. 28,29 Our data strongly support a model wherein renal arterioles and tubules are separate targets of porphyrin precursors and that ALA and PBG promote cell epithelial phenotypic changes and apoptosis, leading to a primitive tubulointerstitial nephropathy. It does not exclude the fact that these injuries could be interrelated and that tissue ischemia generated by arterial lumen narrowing could independently fuel tubular atrophy and interstitial fibrosis.…”

Section: Discussionsupporting

confidence: 65%

High prevalence of and potential mechanisms for chronic kidney disease in patients with acute intermittent porphyria

Pallet

Mami

Schmitt

et al. 2015

Kidney International

100

113

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Acute intermittent porphyria (AIP) is a genetic disorder of the synthesis of heme caused by a deficiency in hydroxymethylbilane synthase (HMBS), leading to the overproduction of the porphyrin precursors δ-aminolevulinic acid and porphobilinogen. The aim of this study is to describe the clinical and biological characteristics, the renal pathology, and the cellular mechanisms of chronic kidney disease associated with AIP. A total of 415 patients with HMBS deficiency followed up in the French Porphyria Center were enrolled in 2003 in a population-based study. A follow-up study was conducted in 2013, assessing patients for clinical, biological, and histological parameters. In vitro models were used to determine whether porphyrin precursors promote tubular and endothelial cytotoxicity. Chronic kidney disease occurred in up to 59% of the symptomatic AIP patients, with a decline in the glomerular filtration rate of ~1 ml/min per 1.73 m(2) annually. Proteinuria was absent in the vast majority of the cases. The renal pathology was a chronic tubulointerstitial nephropathy, associated with a fibrous intimal hyperplasia and focal cortical atrophy. Our experimental data provide evidence that porphyrin precursors promote endoplasmic reticulum stress, apoptosis, and epithelial phenotypic changes in proximal tubular cells. In conclusion, the diagnosis of chronic kidney disease associated with AIP should be considered in cases of chronic tubulointerstitial nephropathy and/or focal cortical atrophy with severe proliferative arteriosclerosis.

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Section: Discussionsupporting

confidence: 65%

High prevalence of and potential mechanisms for chronic kidney disease in patients with acute intermittent porphyria

Pallet

Mami

Schmitt

et al. 2015

Kidney International

100

113

View full text Add to dashboard Cite

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“…Abdominal symptoms are thought to be, at least in part, related to gut ischaemia [ 43 ]. The brain autopsies of AIP patients who died during crisis indicate the existence of multiple small infarcts [ 44 , 45 ], and AIP attacks can cause posterior reversible encephalopathy [ 46 , 47 ]. Consistent with a role of arteriolar damage in the pathogenesis of PAKD, the findings of kidney biopsies highlight the importance of the arteriolopathy associated with AIP: in half of the cases, severe vascular lesions comprising fibrous intimal hyperplasia associated with focal cortical atrophy, a finding reminiscent of the primary antiphospholipid syndrome–associated renal vasculopathy, were observed [ 38 , 48 ].…”

Section: Aip Promotes Kidney Injurymentioning

confidence: 99%

Porphyria and kidney diseases

Pallet

Karras

Thervet

et al. 2018

Clinical Kidney Journal

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The kidneys, after the bone marrow and liver, are third in terms of the amounts of haem synthesized daily. Haem is incorporated into haemoproteins that are critical to renal physiology. In turn, disturbances in haem metabolism interfere with renal physiology and are tightly interrelated with kidney diseases. Acute intermittent porphyria causes kidney injury, whereas medical situations associated with end-stage renal disease, such as porphyrin accumulation, iron overload and hepatitis C, participate in the inhibition of uroporphyrinogen decarboxylase and predispose the individual to porphyria cutanea tarda. Even if some of these interactions have been known for a long time, the clinical situations associated with these interrelations have strikingly evolved over time with the advent of new therapeutic strategies for dialysis therapy and a better understanding of the pathophysiological mechanisms of porphyria-associated kidney disease. Physicians should be aware of these interactions. The aim of this review is to summarize the complex interactions between kidney physiology and pathology in the settings of porphyria and to emphasize their often-underestimated importance.

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“…24 Various cases of cerebral damage caused by hypertensive emergencies in patients with an acute porphyric attack have been described in the literature. [24][25][26][27][28][29][30][31][32] As in our case, those brain lesions tend to show a benign course and are reversible in the majority of the affected patients.…”

Section: Fernandezmentioning

confidence: 88%

“…24 En la bibliografía, se han descrito varios casos de daño cerebral causado por urgencias hipertensivas en pacientes con una crisis porfírica aguda. [24][25][26][27][28][29][30][31][32] Al igual que en nuestro caso, esas lesiones cerebrales tienden a presentar una evolución benigna y son reversibles en la mayoría de los pacientes afectados.…”

Section: Discusión Anatomopatológica C Fernándezunclassified

Unusual Case of Severe Hypertension in a 20-Year-Old Woman

et al. 2015

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A 20-year-old woman was seen in the emergency department because of abdominal pain and hypertension. The patient had no notable medical history, and there were no inherited disorders in her family. She had been well until 1 month before admission, when a sharp, constant, and diffuse abdominal pain developed. The pain was not modified by food intake, defecation or positional changes. The patient did not report anorexia, nausea, retching, or changes in her bowel habits. She had not experienced menstrual disorders or irritative urinary symptoms. Two days before admission a mild generalized headache developed. The patient had been seen in the emergency department 9× since the onset of symptoms, being discharged with different diagnosis including cystitis and nephritic colic among others. Abdominal ultrasonography was normal, and the gynecological evaluation did not show abnormalities. Over the past month, she had been prescribed analgesics and nonsteroidal anti-inflammatory drugs, prokinetics, spasmolytics, and antibiotics, without clinical improvement.At admission, on physical examination, the patient was alert, uncomfortable but cooperative. Temperature was 36.3°C, blood pressure (BP) was 166/111 mm Hg, pulse was 120 bpm, respiratory rate was 18 breaths/min, and oxygen saturation was 98%. The abdomen was soft and nondistended, with soft bowel sounds and absence of bruits, without hepatomegaly or splenomegaly, or signs of peritoneal inflammation. Peripheral pulses were regular and symmetrical without carotid-femoral delay. The neurological examination did not reveal any abnormality. The laboratory test showed mild hyponatremia (serum sodium, 126 mmol/L) with normal potassium levels (3.8 mmol/L), mild elevation of transaminases and mild leukocytosis (white-cell count, 15 100/mm 3 with 80.1% segmented neutrophils), the rest of the analytic profile was normal (Table S1 in the online-only Data Supplement). Electrocardiography tracing on sinus rhythm was without signs of left ventricular hypertrophy or myocardial ischemia. Cerebral computed tomographic scan revealed bilateral hypodense lesions in the subcortical white matter of the occipital area. The fundoscopic examination showed a normal fundus without vessel alterations. Urinalysis, abdominal ultrasonography, abdominal computerized tomographic scan, and chest radiograph did not show abnormalities. A review of clinical chart and laboratory values obtained in the emergency department in the last month revealed BP values above 140/90 mm Hg and persistent hyponatremia. The patient was admitted to the hospital and treated with 10 mg of amlodipine once daily.At admission, the patient developed 2 self-limited episodes of blurry vision, which lasted ≈45 minutes each and were accompanied by mild generalized headache without vegetative symptoms. She also reported progressive muscle weakness. The general and neurological examination was repeatedly normal except for the absence of the patellar reflex, and her BP was 145/105 mm Hg. Magnetic resonance imaging of the brain confirm...

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Reversible MRI Findings of Porphyric Encephalopathy

Cited by 9 publications

References 9 publications

High prevalence of and potential mechanisms for chronic kidney disease in patients with acute intermittent porphyria

High prevalence of and potential mechanisms for chronic kidney disease in patients with acute intermittent porphyria

Porphyria and kidney diseases

Unusual Case of Severe Hypertension in a 20-Year-Old Woman

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