Case Of Porphyria Research Articles

Toxic Porphyria

Abstract 1. Numerous cases of porphyria of the "cutanea tarda" type were observed recently in the southeastern districts of Turkey. The toxic agents appear to have been fungicides, including two mercury compounds together with hexachlorobenzol which were added to seed wheat. The disease did not appear in peasants who did not consume this seed wheat. There were no indications of buckwheat toxicity; furthermore, this seed is not cultivated in Turkey. Six of the affected patients were treated in our clinic. 2. Clinically the patients presented cachexia, bullae, hyperpigmentation and hypertrichosis, i.e., skin lesions of the cutanea tarda type of porphyria. There were no cases of splenomegaly, and no abdominal or neurologic signs. 3. The patients were found to have an organic and functional liver disease. No suprarenal cortical dysfunction was recorded. X-rays of the bones were normal. No signs of hemolysis were present. Bone marrow studies revealed slight normoblastic hyperplasia. 4. Urinary porphobilinogen was repeatedly found to be negative. Urinary and fecal uroporphyrin 1 and coproporphyin 111 were present in excess. The fecal excretion of coproporphyrin 111 was greater than that of uroporphyrin 1, whereas in the urine the relation was reversed. The bone marrow content of porphyrin was not increased. No fluorescence was recorded in the fresh unstained blood smears by fluorescence microscopy. 5. Our cases had the clinical and laboratory findings consistent with the cutanea tarda type of porphyria. 6. The advanced and severe alteration of our patients' porphyrin metabolism may not be reversible. Although the bullae disappeared during their hospital residence, the excessive porphyrin excretion was still present on their departure from the clinic. 7. For therapy, the patients were given a high caloric diet of protein rich food and treated with liver extracts, vitamin B1, B2, B12 and whole B-complex preparations. We can express no opinion as to the value of this treatment.

Porphyria treated with prochlorperazine.

A CUTE intermittent porphyria is an uncommon illness in which abnormal amounts and kinds of porphyrins are excreted in the urine and feces, resulting from an inborn error of porphyrin metabolism.1 , 2 The diagnosis is usually confirmed by the demonstration of one of the uroporphyrins or the colorless chromogen porphobilinogen in the urine.2 In the following case of porphyria, which is presented because it is believed to be the first treated with prochlorperazine, the drug was employed empirically to relieve vomiting and mental agitation. Case Report A 47-year-old married woman was admitted to the Maimonides Hospital on November 24, 1957, because . . .

The treatment of acute porphyria with chelating agents: a report of 21 cases.

Excerpt Acute porphyria, especially its therapy, has challenged the clinician for years. The mortality rate when associated with severe neuropsychiatric manifestations is quoted as from 80 to 90%.1...

Erythropoietic (Congenital) Porphyria: A Rare Abnormality of the Normoblasts

Abstract 1. In 5 patients with erythropoietic (congenital) porphyria, unstained bone marrow preparations were studied and photographed by fluorescence and absorption microscopy. The same marrow slides were also studied after ordinary staining. 2. Two morphologically different varieties of normoblasts were observed, which were designated as normal and abnormal cells. Normoblasts of the abnormal variety exhibited nuclear inclusion bodies containing hemoglobin. 3. Red fluorescence, indicative of porphyrin, was found only in normoblasts belonging to the abnormal cell variety. Normal normoblasts failed to exhibit red fluorescence. 4. The red fluorescence originated predominantly from the normoblastic nucleus. The fluorescence intensity of the cytoplasm was usually very low. Polychromatophilic erythrocytes also exhibited only weak fluorescence. 5. These findings indicate the coexistence of two different lines of normoblasts. The nuclei of cells belonging to the abnormal line probably form excessive amounts of porphyrins and may release them into the plasma in the course of cellular maturation. It is believed that these cells carry the abnormal trait representing the "inborn error of metabolism." 6. A critical review of all cases of porphyria, reported as "congenital," has shown that on the basis of the presented data, it was possible to establish the diagnosis of erythropoietic (congenital) porphyria beyond reasonable doubt in but 34 instances. Nineteen of the patients were female, fourteen were male. In a few families, more than one case was observed in the same generation, but in no instance was the disease recognized in subsequent generations. 7. Erythropoietic porphyria is a congenital disease, entirely distinct from hepatic photosensitive ("cutanea tarda") porphyria. No evidence has been found of a genetic mixture of these two forms of porphyria.

An interesting case of porphyria.

Back to table of contents Previous article Next article ArticleNo AccessAN INTERESTING CASE OF PORPHYRIAS. HIRSCH, and F. A. DUNSWORTHS. HIRSCHSearch for more papers by this author, and F. A. DUNSWORTHSearch for more papers by this authorPublished Online:1 Apr 2006https://doi.org/10.1176/ajp.111.9.703AboutSectionsPDF/EPUB ToolsAdd to favoritesDownload CitationsTrack Citations ShareShare onFacebookTwitterLinked InEmail "AN INTERESTING CASE OF PORPHYRIA." American Journal of Psychiatry, 111(9), p. 703 Access content To read the fulltext, please use one of the options below to sign in or purchase access. Personal login Institutional Login Sign in via OpenAthens Purchase Save for later Item saved, go to cart PPV Articles - American Journal of Psychiatry $35.00 Add to cart PPV Articles - American Journal of Psychiatry Checkout Please login/register if you wish to pair your device and check access availability. Not a subscriber? Subscribe Now / Learn More PsychiatryOnline subscription options offer access to the DSM-5 library, books, journals, CME, and patient resources. This all-in-one virtual library provides psychiatrists and mental health professionals with key resources for diagnosis, treatment, research, and professional development. Need more help? PsychiatryOnline Customer Service may be reached by emailing [email protected] or by calling 800-368-5777 (in the U.S.) or 703-907-7322 (outside the U.S.). FiguresReferencesCited byDetailsCited By Volume 111Issue 9 March 1955Pages 703-703 Metrics PDF download History Published online 1 April 2006 Published in print 1 March 1955

Red fluorescence of urine in Wood's light as aid in office diagnosis of porphyria.

The usual methods of examination for porphyrins in the urine demand considerable time and effort on the part of the physician and the technician. No fast reliable method for quantitatively estimating coproporphyrin in the urine has been devised, but the significance of increased excretion of this pigment has been found to be unimportant in the dermatoses 1 though of importance and interest in the anemias, hepatopathies and febrile disorders. Porphyria, on the other hand, in which uroporphyrin, an abnormal porphyrin, is found in the urine, may be of great significance to dermatologists. With porphyria, one may see various dermatologic symptoms. Hydroa estivale, epidermolysis bullosa-like lesions, sclerodermatous eruptions, hypertrichosis and hyperpigmentation have been recognized to occur with porphyria. In addition, persons with porphyria not infrequently have gastrointestinal or neuropsychiatric complaints. Study of several cases of porphyria has taught me that the diagnosis may be made in any dermatologist's

ACUTE PORPHYRIA

ACUTE porphyria is a familial metabolic disease of unknown etiology characterized by repeated attacks of severe abdominal colic, associated usually with constipation and often with vomiting, and accompanied with abnormalities of the central nervous system amounting in many cases to rapidly fatal ascending paralysis. It has generally been thought that an essential feature of the condition is the passage of red urine containing an excess of porphyrins and other pigments, but recently it has become appreciated that these pigments are frequently excreted in the form of a colorless precursor. Waldenstrom and Vahlquist (1939)1gave this precursor the name porphobilinogen and claimed that, whereas it is stable in alkaline solution, in acid solution it is converted to uroporphyrin and to a urobilinoid pigment, porphobilin. This was confirmed by Prunty (1945).2The present paper describes a fatal case of porphyria, the clinical features of which were typical of the condition