2022
DOI: 10.1007/s11910-022-01205-7
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Neurological Manifestations of Acute Porphyrias

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Cited by 13 publications
(18 citation statements)
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“…Renal involvement in acute porphyrias includes hyponatremia, urinary retention, tubule-interstitial nephropathy, hypertension, and chronic kidney disease. Most patients suffer from renal colic associated with pallor, nausea, vomiting, fever, acute urine retention and dark urine [4][5][6][7][8].…”
Section: Introductionmentioning
confidence: 99%
“…Renal involvement in acute porphyrias includes hyponatremia, urinary retention, tubule-interstitial nephropathy, hypertension, and chronic kidney disease. Most patients suffer from renal colic associated with pallor, nausea, vomiting, fever, acute urine retention and dark urine [4][5][6][7][8].…”
Section: Introductionmentioning
confidence: 99%
“…ALA and PBG accumulate during overt crises, which manifests with neuro-visceral symptoms intensified by some drugs, hormones, and nutritional changes. AIP treatment relies on intravenous injection of ferric chloride salt of heme (hemin) or carbohydrate loading for mild attacks or when hemin is unobtainable [ 7 , 8 ]. In general, porphyrias are inherited diseases, while porphyria cutanea is caused by an acquired enzymatic deficiency in liver, although an inherited deficiency is a predisposing factor in some cases (Yasuda 2018) [ 9 ].…”
Section: Introductionmentioning
confidence: 99%
“…Porphyrias consist of nine genetic disorders, acquired or congenital, resulting from failures in the biosynthesis process of the heme group, resulting in the accumulation of metabolic intermediates in the human body, causing toxicity [1]. The heme group is indispensable for the performance of oxidation-reduction reactions, in addition to being essential for the functionality of several enzymes and proteins related to energy metabolism.…”
Section: Introductionmentioning
confidence: 99%
“…In most countries, such as the United States, a genetic prevalence of porphyria is estimated in the order of 1/10.000 individuals, while the manifestation of the aforementioned disease, in the USA, is approximately 5/100.000 inhabitants, with no indication of seasonal predominance in the incidence of porphyria [6]. Patients affected by this condition may present, as symptoms, neurological dysfunctions (neuropathies, alternations in the level of consciousness, seizures and behavioral abnormalities), neurovisceral alterations (gastrointestinal symptoms) and cutaneous manifestations (cutaneous photosensitivity and hemolysis) [1].…”
Section: Introductionmentioning
confidence: 99%