porphyrias: a review and case report. anemia mcv=hct/rbc 80-100 100 microcytic sudden massive blood...
TRANSCRIPT
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Porphyrias: a review and case report
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Anemia
MCV=HCT/RBC
80-100<80 >100
Microcytic Sudden massive blood loseMarrow failure hemolysis
Megaloblastic anemiaSpurious macrocytic anemia
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Microcytic anemia
Defect in hemoglobin synthesis
3-dimensional structure of hemoglobin. The four subunits are shown in red and yellow, and the heme groups in green.
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Microcytic anemia
Defect in hemoglobin sythesis
Iron binding capacityLow or normal High
High Low or normalIron
Iron deficiencyDefect in:Porphyrin synthesisHeme synthesisGlobin synthesis
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Defect in:Porphyrin synthesisHeme synthesisGlobin synthesis
Hemoglobin electrophoresis
AbnormalNormal
Defect in:Porphyrin synthesisHeme synthesis
Defect in:Globin synthesis
Quantitative QualitativeBoth
Thalassemia Sickle-thal S,C,F,ect
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Heme
Non-erythroid Erythroid
Haemoproteins Haemoglobin
Electron transfer and energy trapping
myoglobin Cytochromes Others
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Porphyrins synthesis
URO ISpontaneous
COPRO I
Mitochondrion Cytosol
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ALA synthase
D-ALA
ALA dehydrase
PBG deaminase
Hydroxymethylbilane
NH2-CH2-COOH+
Glycine
PBG
Water-solubleExcreted in urine
Water-solubleExcreted in urine
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Hydroxymethylbilane
Uroporphyrinogen III
URO I
URO III synthase Spontaneous
Coproporphyrinogen III
COPRO I
URO III decarboxylase
Less water-solubleExcreted in urine/feces
Water-solubleExcreted in urine
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CORPO III
Protoporphyrinogen IX
COPRO oxidase
PROTO oxidase
Protoporphyrin IX
FerrochelataseHeme
Poor water-solubilityExcreted in feces
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Acute Porphyrias Acute Intermittent Porphyria
Variegate Porphyria
Hereditary Coproporphyria
Porphyria Cutanea Tarda
Congenital Erythropietic Porphyria
Non-acute Porphyrias
ALAD Deficiency Porphyria
Secondary Porphyrias
Lead Poisoning
Iron Deficiency
Coproporphyrinuria
Glycine +Succinyl CoA
ALA synthase
ALAALA dehydrase
PBGPBG deaminase
Hydroxymethylbilane
URO III URO I
URO III synthase Spontaneous
COPRO IIICOPRO I
PROTO IX
COPRO oxidase
URO III decarboxylase
PROTO oxidase
Protoporphyrin IX
Ferrochelatase
Heme
Erythropoietic Protoporphyria
(NeurologicalPorphyrias)
(CutaneousPorphyrias)
(Unstable)
Main Types of Porphyria
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Main Types of Porphyria
Acute Porphyrias
Acute Intermittent Porphyria
Variegate Porphyria
Hereditary Coproporphyria
Porphyria Cutanea Tarda
Congenital Erythropietic Porphyria
Non-acute Porphyrias
ALAD Deficiency Porphyria
Secondary Porphyrias
Lead Poisoning
Iron Deficiency
Coproporphyrinuria
Erythropoietic Protoporphyria
(NeurologicalPorphyrias)
(CutaneousPorphyrias)
InheritanceTissue expression
Liver
Erythroid cells
E , L
Autosomal recessive
Liver
Liver
Liver
Liver
Autosomal dominant
Autosomal dominant
Autosomal dominant
Autosomal dominant
Autosomal dominant
Autosomal recessive
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Acute Porphyrias Acute Intermittent Porphyria
Variegate Porphyria
Hereditary Coproporphyria
Porphyria Cutanea Tarda
Congenital Erythropietic Porphyria
Non-acute Porphyrias
ALAD Deficiency Porphyria
Secondary Porphyrias
Lead Poisoning
Iron Deficiency
Coproporphyrinuria
Glycine +Succinyl CoA
ALA synthase
ALAALA dehydrase
PBGPBG deaminase
Hydroxymethylbilane
URO III URO I
URO III synthase Spontaneous
COPRO IIICOPRO I
PROTO IX
COPRO oxidase
URO III decarboxylase
PROTO oxidase
Protoporphyrin IX
Ferrochelatase
Heme
urine
Erythropoietic Protoporphyria
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Acute Porphyrias Acute Intermittent Porphyria
Variegate Porphyria
Hereditary Coproporphyria
Porphyria Cutanea Tarda
Congenital Erythropietic Porphyria
Non-acute Porphyrias
ALAD Deficiency Porphyria
Secondary Porphyrias
Lead Poisoning
Iron Deficiency
Coproporphyrinuria
Glycine +Succinyl CoA
ALA synthase
ALAALA dehydrase
PBGPBG deaminase
Hydroxymethylbilane
URO III URO I
URO III synthase Spontaneous
COPRO IIICOPRO I
PROTO IX
COPRO oxidase
URO III decarboxylase
PROTO oxidase
Protoporphyrin IX
Ferrochelatase
Heme
urine
urine
Erythropoietic Protoporphyria urine
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Acute Porphyrias Acute Intermittent Porphyria
Variegate Porphyria
Hereditary Coproporphyria
Porphyria Cutanea Tarda
Congenital Erythropietic Porphyria
Non-acute Porphyrias
ALAD Deficiency Porphyria
Secondary Porphyrias
Lead Poisoning
Iron Deficiency
Coproporphyrinuria
Glycine +Succinyl CoA
ALA synthase
ALAALA dehydrase
PBGPBG deaminase
Hydroxymethylbilane
URO III URO I
URO III synthase Spontaneous
COPRO IIICOPRO I
PROTO IX
COPRO oxidase
URO IIIdecarboxylase
PROTO oxidase
Protoporphyrin IX
Ferrochelatase
Heme
urine
urine
Erythropoietic Protoporphyria urine
Urinefeces
urine
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Acute Porphyrias Acute Intermittent Porphyria
Variegate Porphyria
Hereditary Coproporphyria
Porphyria Cutanea Tarda
Congenital Erythropietic Porphyria
Non-acute Porphyrias
ALAD Deficiency Porphyria
Secondary Porphyrias
Lead Poisoning
Iron Deficiency
Coproporphyrinuria
Glycine +Succinyl CoA
ALA synthase
ALAALA dehydrase
PBGPBG deaminase
Hydroxymethylbilane
URO III URO I
URO III synthase Spontaneous
COPRO IIICOPRO I
PROTO IX
COPRO oxidase
URO IIIdecarboxylase
PROTO oxidase
Protoporphyrin IX
Ferrochelatase
Heme
urine
urine
Erythropoietic Protoporphyria urine
Urinefeces
feces
urine
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Acute Porphyrias Acute Intermittent Porphyria
Variegate Porphyria
Hereditary Coproporphyria
Porphyria Cutanea Tarda
Congenital Erythropietic PorphyriaNon-acute Porphyrias
ALAD Deficiency Porphyria
Secondary Porphyrias
Lead Poisoning
Iron Deficiency
Coproporphyrinuria
Glycine +Succinyl CoA
ALA synthase
ALAALA dehydrase
PBGPBG deaminase
Hydroxymethylbilane
URO III URO I
URO III synthase Spontaneous
COPRO IIICOPRO I
PROTO IX
COPRO oxidase
URO IIIdecarboxylase
PROTO oxidase
Protoporphyrin IX
Ferrochelatase
Heme
Erythropoietic Protoporphyria
Urine
UrineFeces
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Acute Porphyrias Acute Intermittent Porphyria
Variegate Porphyria
Hereditary Coproporphyria
Porphyria Cutanea Tarda
Congenital Erythropietic PorphyriaNon-acute Porphyrias
ALAD Deficiency Porphyria
Secondary Porphyrias
Lead Poisoning
Iron Deficiency
Coproporphyrinuria
Glycine +Succinyl CoA
ALA synthase
ALAALA dehydrase
PBGPBG deaminase
Hydroxymethylbilane
URO III URO I
URO III synthase Spontaneous
COPRO IIICOPRO I
PROTO IX
COPRO oxidase
URO III decarboxylase
PROTO oxidase
Protoporphyrin IX
Ferrochelatase
Heme
Erythropoietic Protoporphyria
urine Urine
UrineFeces
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Acute Porphyrias Acute Intermittent Porphyria
Variegate Porphyria
Hereditary Coproporphyria
Porphyria Cutanea Tarda
Congenital Erythropietic PorphyriaNon-acute Porphyrias
ALAD Deficiency Porphyria
Secondary Porphyrias
Lead Poisoning
Iron Deficiency
Coproporphyrinuria
Glycine +Succinyl CoA
ALA synthase
ALAALA dehydrase
PBGPBG deaminase
Hydroxymethylbilane
URO III URO I
URO III synthase Spontaneous
COPRO IIICOPRO I
PROTO IX
COPRO oxidase
URO IIIdecarboxylase
PROTO oxidase
Protoporphyrin IX
Ferrochelatase
Heme
Erythropoietic Protoporphyria
Feces
Feces
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Acute Porphyrias Acute Intermittent Porphyria
Variegate Porphyria
Hereditary Coproporphyria
Porphyria Cutanea Tarda
Congenital Erythropietic PorphyriaNon-acute Porphyrias
ALAD Deficiency Porphyria
Secondary Porphyrias
Lead Poisoning
Iron Deficiency
Coproporphyrinuria
Glycine +Succinyl CoA
ALA synthase
ALAALA dehydrase
PBGPBG deaminase
Hydroxymethylbilane
URO III URO I
URO III synthase Spontaneous
COPRO IIICOPRO I
PROTO IX
COPRO oxidase
URO III decarboxylase
PROTO oxidase
Protoporphyrin IX
Ferrochelatase
Heme
Erythropoietic Protoporphyria
Feces
Feces
urine
UrineFeces
Zn-protoporphyrin
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Acute Porphyrias Acute Intermittent Porphyria
Variegate Porphyria
Hereditary Coproporphyria
Porphyria Cutanea Tarda
Congenital Erythropietic PorphyriaNon-acute Porphyrias
ALAD Deficiency Porphyria
Secondary Porphyrias
Lead Poisoning
Iron Deficiency
Coproporphyrinuria
Glycine +Succinyl CoA
ALA synthase
ALAALA dehydrase
PBGPBG deaminase
Hydroxymethylbilane
URO III URO I
URO III synthase Spontaneous
COPRO IIICOPRO I
PROTO IX
COPRO oxidase
URO III decarboxylase
PROTO oxidase
Protoporphyrin IX
Ferrochelatase
Heme
Erythropoietic Protoporphyria
Zn-protoporphyrin
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Hepatic Porphyrias (normal RBC Porphyrins) Erythropoietic Porphyrias ( RBC Porphyrins)
Acute Intermittent Porphyria (AIP) Congenital Erythropoietic Porphyria (CEP)
Variegate porphyria (VP) Erythropoietic Protoporphyria (EP)
Hereditary Coproporphyria (HCP)
Porphyria Cutanea Tarda (PCT)
Sunnybrook Health Sciences Center Sampling Guide
Presentation: Porphyrias Tests to order Sample
Acute symptoms AIP 1. Urine Porphyrin Precursors Screen & Quantitation Random (50 ml) or 24-h with Tartaric acid
Acute symptoms + skin lesions (may occur independently)
VPHCP
2. Feces Porphyrins Screen & Quantitation Random
Skin lesions PCTCEPEP
1. Urine Porphyrin Precursors Screen & Quantitation2. Feces Porphyrins Screen & Quantitation3. Urine Porphyrins Screen & Quantitation4. RBC Porphyrins Screen & Quantitation
Random (50 ml) or 24-h with Tartaric acidRandom Random (50 ml) or 24-h with Na2CO3Lavender-top (EDTA) blood; need Hct
Notes:At time of acute attack:1. Collect a random urine sample first (50 ml with no preservatives), before attempting to collect a 24-h sample. 2. Request "Porphyrin Precursors" (ALA & PBG) instead of "Porphyrins" screen and quantitation. The Laboratory will have to adjust pH to 4-6 for "Porphyrin Precursors", but pH 8-10 for "Porphyrins". - The commonest problem causing confusion!3. All sample containers should be covered with tin foil to shield off from light.
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Test Name Specimen Type Search / Alternate Name
Porphyrin Precursors (ALA & PBG)
Urine (24h) ALA,Aminolevulinic Acid,PBG,Porphobilinogen, -ALA, -aminolevulinic Acid
Porphyrin Precursors (ALA & PBG)
Urine (Random) ALA,Aminolevulinic Acid,PBG, -ALA,Porphobilinogen
Porphyrins: Quantitation
Urine (24h) Uroporphyrin,Heptacarboxylic Acid,Hexacarboxylic Acid,Pentacarboxylic Acid,Coproporphyrin
Porphyrins: Quantitation
Urine (Random) Uroporphyrin,Heptacarboxylic Acid,Hexacarboxylic Acid,Pentacarboxylic Acid,Coproporphyrin
Porphyrins: Quantitation
Whole blood (EDTA)
Free Protoporphyrin,Protoporphyrin - Free
Porphyrins: Quantitation
Feces (Random) Coproporphyrin,Uroporphyrin,Heptacarboxylic Acid,Hexacarboxylic Acid,Pentacarboxylic Acid,Deuteroporphyrin,Mesoporphyrin,Protoporphyrin
Porphyrins: Quantitation
Plasma (EDTA or Heparin)
Uroporphyrin,Heptacarboxylic Acid,Hexacarboxylic Acid,Pentacarboxylic Acid,Coproporphyrin
Bio-Rad Column
HPLC
Porphyrin assays provided through HICL
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Isocoproporphyrin
Not Available - See Note.
Porphobilinogen Deaminase
Whole blood (Heparin)
Uroporphyrinogen 1 Synthetase,HMB,Hydroxymethylbilane Synthase
Porphyrins: Screen
Urine (24h)
Porphyrins: Screen
Feces (Random)
Porphyrins: Screen
Urine (Random)
Zinc Protoporphyrin
Whole blood (Heparin)
ZPP,Metal
ICP-MS Lead
Whole blood (heparin)
Pb,Zinc Protoporphyrin,ZPP,Metal
Enzymatic
Spectrophometric Screening
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CASE
A boy, average hematologic parameters over the subsequent 3 years were as follows:
Defect in:Porphyrin synthesisHeme synthesisGlobin synthesis
microcytic
Iron studies were unremarkable →
Hemoglobin (Hb) level, 70.0 g/L;
Mean corpuscular volume (MCV), 67 fL →
Mean corpuscular hemoglobin level, consistently < 20 pg;
Reticulocyte counts ranged from 3.6% to 6.7%;
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A physical examination revealed scars on the face, hands, and forearms. → photosensitive bullous dermatosis
A 50-mL urine sample contained 2003 ug uroporphyrin (normal, trace); 92% of this was uro-I. → CEP
The diapers exhibited brilliant pink fluorescence when illuminated with long-range ultraviolet light. → Photosensitive porphyrin rings
Fluorescent red cells were detected using a microscope fitted with a 405 nm light source. → CEP or EP
Erythrocyte UROS activity was 21% of the normal mean. Collectively, these findings confirmed the diagnosis of CEP.
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Erythrocyte UROS activity was normal in both parents, an unexpected finding as obligate carriers (heterozygotes) for UROS mutations generally have half-normal enzymatic activity.
UROS was sequenced, and no mutations or deletions were found in thechild or the parents.
A GATA1 point mutation was found in the child at codon 216, changing arginine to tryptophan (R216W), as well as on 1 of the 2 GATA1 alleles of his mother and maternal grandmother.
GATA1 gene, at Xp11.23, encodes a transcription factor, GATA bindingfactor 1 (GATA-1), that is critical for normal erythropoiesis, globingene expression, and megakaryocyte development.
GATA-1 also regulates expression of UROS in developing erythrocytes.
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General Symptomology: __Abdominal pain___Abdominal tenderness___Loss of appetite___Nausea___Vomiting___Constipation___Carbohydrate craving___Breast secretions___Diarrhea___Partial ileus [Intestinal blockage]___Abdominal distention___Dysuria [Painful Urination]___Bladder Dysfunction___Urinary Retention___Amenorrhea [Lack of menses]
Physical Findings of Acute Attack__Red or dark urine___Tachycardia [Pulse] >100___Labile hypertension >90 diastolic [blood pressure]___Fever [Pyrexia]___Profused sweating___Edema [Retention of fluids] [Swelling]___Postural Hypotension [Low Blood Pressure]___Hypertrichosis [excessive body hair growth]___Hyperpigmentation [skin coloring]
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Neurological Symptoms of Acute Attack[Peripheral manifestations]
___Peripheral neuropathy___Muscle weakness___Paresis . paralysis___Sensory disorde___Respiratory paralysis___Foot drop___Wrist drop___Abnormal Gait___Pain: Arms, legs, hips and/or lower back___Loss of sensation___Dyesthesia ___Numbness ___Tingling ___Burning Sensation___Bulbar paresis ___Tongue paralization ___Mouth paralization ___Throat paralization
[Cerebral manifestations]
___Behavorial change___Anxiety___Irritability___Delirium___Depression___Confusion___Hallucination___Insomnia___ANS [altered neurological state]___Restlessness___Sensory loss___Seizure___Depressed or absent tendon reflexes___Cranial nerve involvement
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Hematology/Blood Chemistry
___Hyponatremia [Below normal sodium level] <130___Increased Bun [Urea Nitrogen]___Increased AST [Aspartate Aminotransferase]___Elevated Alkaline Phosphatase [Liver panel test]___Increased ALT [Aspartate Aminotransferase]___Hypokalemia [Below normal potassium level]___Leukocytosis [Abnormal increase in WBC] > 10,000___Increased ESR >22___Hypochloremia < 90 [A decrease in the chloride level]___Anemia [Iron deficiency]
Cutaneous manifestations
___Skin photosensitivity___Blistering___Severe Tissue Scarring___Increased Hair growth___Pigmentation Darkening___Thickening of skin___Severe Itching
Special lab studies
___Decreased blood volume___EEG abnormalities___Electromyographic abnormalities___Muscle denervation___Decreased nerve conduction velocity___Abnormal CSF___Increased fibrillation potential