Studies of Coproporphyrin. Iii. Idiopathic Coproporphyrinuria; A Hitherto Unrecognized Form Characterized by Lack of Symptoms in Spite of the Excretion of Large Amounts of Coproporphyrin 1

Watson, C. J.; Schwartz, Samuel; Schulze, W; Jacobson, Leon O.; Zagaria, Ralph

doi:10.1172/jci102091

Cited by 34 publications

(6 citation statements)

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“…In fact, elevations in urinary coproporphyrin levels have been proposed as biomarkers for such drug effects . Other causes of mild porphyrinuria without porphyria include a variety of anemias and dyserythropoietic states, heavy metal exposures, diabetes mellitus, chronic heart diseases, and many others . Regrettably, many patients with increases in urinary porphyrins have been mislabeled as having porphyria, when, in fact, they do not.…”

Section: Secondary Porphyrinurias: Common Causes Of Misdiagnosismentioning

confidence: 99%

“…(36) Other causes of mild porphyrinuria without porphyria include a variety of anemias and dyserythropoietic states, heavy metal exposures, diabetes mellitus, chronic heart diseases, and many others. (3,37,38) Regrettably, many patients with increases in urinary porphyrins have been mislabeled as having porphyria, when, in fact, they do not. Such overdiagnosis can lead to inappropriate, expensive, and potentially dangerous overtreatment with intravenous heme and other therapies.…”

Section: Secondary Porphyrinurias: Common Causes Of Misdiagnosismentioning

confidence: 99%

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Acute Hepatic Porphyrias: Review and Recent Progress

et al. 2018

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The acute hepatic porphyrias (AHPs) are a group of four inherited diseases of heme biosynthesis that present with episodic, acute neurovisceral symptoms. The four types are 5‐aminolevulinic acid (ALA) dehydratase deficiency porphyria, acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria. Their diagnoses are often missed or delayed because the clinical symptoms mimic other more common disorders. Recent results indicate that acute intermittent porphyria, the most severe of the more common types of AHP, is more prevalent than previously thought, occurring in about 1 in 1600 Caucasians, but with low clinical penetrance (approximately 2%‐3%). Here we provide an updated review of relevant literature and discuss recent and emerging advances in treatment of these disorders. Symptomatic attacks occur primarily in females between 14 and 45 years of age. AHP is diagnosed by finding significantly elevated levels of porphyrin precursors ALA and porphobilinogen in urine. Acute attacks should be treated promptly with intravenous heme therapy to avoid the development of potentially irreversible neurologic sequelae. All patients should be counseled about avoiding potential triggers for acute attacks and monitored regularly for the development of long‐term complications. Their first‐degree relatives should undergo targeted gene testing. Patients who suffer recurrent acute attacks can be particularly challenging to manage. Approximately 20% of patients with recurrent symptoms develop chronic and ongoing pain and other symptoms. We discuss newer treatment options in development, including small interfering RNA, to down‐regulate ALA synthase‐1 and/or wild‐type messenger RNA of defective genes delivered selectively to hepatocytes for these patients. We expect that the newer treatments will diminish and perhaps obviate the need for liver transplantation as treatment of these inborn metabolic disorders.

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Section: Secondary Porphyrinurias: Common Causes Of Misdiagnosismentioning

confidence: 99%

Section: Secondary Porphyrinurias: Common Causes Of Misdiagnosismentioning

confidence: 99%

Acute Hepatic Porphyrias: Review and Recent Progress

et al. 2018

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“…In one group the coproporphyrin concentration of each individual's urine was measured and found not to exceed 7 5 ug./ 100 ml. ; the possibility of a contributor with idiopathic type III coproporphyrinuria (Watson, Schwartz, Schulze, Jacobson & Zagaria, 1949) is therefore excluded: nor did any of the other batches of urine yield notably more porphyrin esters in relation to their size than did this one. In any case there would have to be a surprisingly large number of such 'abnormal' subjects in order to affect all the groups we examined.…”

Section: Discussionmentioning

confidence: 95%

Normal human urinary porphyrins

Comfort

Moore

Weatherall

1954

Biochemical Journal

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Chromatographic methods have recently revealed an extensive intermediary metabolism of the porphyrins, and tri-, penta-, hexa-and heptacarboxylic porphyrin have been found in pathological urines and other materials (Nicholas & Rimington, 1949, 1951). Less is known about the occurrence of these substances in normal mammalian tissues and excreta and the presence of uroporphyrin in normal material is only now becoming established. Several authors have reported the presence of an ether-insoluble porphyrin fraction in normal urine (Fischer & Zerweck, 1924; Lockwood, 1953) and shown that it probably contains uroporphyrin (Nicholas & Rimington, 1949). Schwartz (1953) has recently referred briefly to the finding of crystallizable uroporphyrin and of a number of intermediate porphyrin fractions in normal human urine. There are also negative reports (Grotepass, 1938; Brachvogel, 1950), but the methods of these authors appear to be less sensitive. In order to study the nature of the noncoproporphyrin fractions in urine, we have examined the porphyrins in the urine of healthy adult male humans and rabbits. Some of our findings have already been reported briefly (Weatherall & Comfort, 1952; Comfort & Weatherall, 1954). METHODS CoUection of urine. Nine batches of human urine (total 118-4 1.) were obtained (Table 1). Two batches (nos. 65 and 76) were composed of the collected urine of a single individual. The urine was frozen at-200 as soon as it was passed and was stored at this temperature until it was extracted.

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“…Bei der hereditären Koproporphyrie (HCP; OMIM 121300), die auch unter dem Synonym idiopathische Koproporphyrie bekannt ist, handelt es sich um eine sehr seltene Erkrankung, die erstmalig im Jahr 1949 von Watson beschrieben wurde [13].…”

Section: Hereditäre Koproporphyrieunclassified

Neurokutane Porphyrien

Frank

2016

Hautarzt

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Porphyrias comprise a heterogeneous group of predominantly genetically determined metabolic diseases which are due to a dysfunction in heme biosynthesis. Variegate porphyria and hereditary coproporphyria are referred to as neurocutaneous porphyrias because affected patients can develop both cutaneous symptoms on light-exposed body sites and potentially life-threatening acute neurovisceral symptoms, thereby mimicking several other diseases. In this overview, we provide an update on pathogenesis, clinical manifestation, diagnosis, and therapy of these two types of porphyria.

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Studies of Coproporphyrin. Iii. Idiopathic Coproporphyrinuria; A Hitherto Unrecognized Form Characterized by Lack of Symptoms in Spite of the Excretion of Large Amounts of Coproporphyrin 1

Cited by 34 publications

References 1 publication

Acute Hepatic Porphyrias: Review and Recent Progress

Acute Hepatic Porphyrias: Review and Recent Progress

Normal human urinary porphyrins

Neurokutane Porphyrien

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