RARE DISEASE
Sporadic porphyria cutanea tarda
Sporadic porphyria cutanea tarda
Sporadic porphyria cutanea tarda
Synonyms: Porphyria cutanea tarda type I
Synonyms: Porphyria cutanea tarda type I
Synonyms: Porphyria cutanea tarda type I
Drug discovery
0
drugs
With orphan designations
Overview
Sporadic porphyria cutanea tarda (PCT), the most common hepatic porphyria, arises from acquired hepatic uroporphyrinogen decarboxylase inhibition linked to iron overload, oxidative stress, and triggers like alcohol, hepatitis C (HCV), estrogen use, and smoking. It manifests as photosensitive blistering skin lesions, hyperpigmentation, and hepatopathy. Diagnostic hallmarks include elevated plasma/urinary porphyrins and hepatic siderosis. Treatment focuses on iron depletion and porphyrin elimination [1][3][5].
Population
Primarily affects adults >40 years (peak 5th-6th decades) with equal sex distribution in sporadic cases [5][7].
Prevalent in Europe (1/25,000); 75-80% of PCT cases are sporadic [9][19].
Strongly associated with HCV (19-25%), alcohol misuse, and HFE gene mutations (C282Y homozygosity in 14% of cases) [12][18].
Burden
Chronic skin fragility, scarring, and recurrent lesions impacting quality of life [4][14].
Liver complications: Cirrhosis (≤35%), hepatocellular carcinoma (7-24%), and frequent comorbidities (diabetes, iron overload) [1][5][16].
Increased long-term sick leave (HR=1.4) and disability pension (HR=1.5) linked to hepatic/skin morbidity and psychiatric comorbidities [14].
Key monitoring includes hepatic surveillance, iron studies, and porphyrin levels to guide therapy and detect relapse [5][18].
Therapies
Phlebotomy: First-line therapy (6-10 sessions), targeting ferritin ≤50 ng/mL [1][5][11].
Low-dose chloroquine/hydroxychloroquine: 100-125 mg twice weekly for non-phlebotomy candidates [6][13].
Risk factor management: HCV antiviral therapy, alcohol/smoking cessation, and estrogen discontinuation [6][8][18].
Categories: rare genetic diseases, rare hepatic diseases, rare inborn errors of metabolism, rare renal diseases, rare skin diseases
Research Papers
110 drug discovery papers about Sporadic porphyria cutanea tarda. Recent publications:
110 drug discovery papers about Sporadic porphyria cutanea tarda. Recent publications:
categories:
Small molecules
small molecules
2026-07-28 | Case Report: HCV-triggered porphyria cutanea tarda in a patient with SEC23B-mutated congenital dyserythropoietic anemia type II.
Porphyria cutanea tarda (PCT) is a hepatic porphyria often triggered by hepatitis C virus (HCV) infection, iron overload, or environmental exposure. Congenital dyserythropoietic anemia type II (CDA II) caused by SEC23B mutations leads to ineffective erythropoiesis and secondary iron accumulation. We report a 34-year-old man with genetically confirmed SEC23B-mutated CDA II who developed photosensitive bullae associated with chronic HCV genotype 1b infection, hyperbilirubinemia, and severe iron overload. Urinary porphyrins were positive, and skin biopsy showed subepidermal bullae with PAS-positive deposits, supporting the diagnosis of PCT. After unsuccessful therapy with hydroxychloroquine, treatment with sofosbuvir/velpatasvir achieved sustained virologic response, resolution of skin lesions, and marked ferritin reduction. This case illustrates that viral and metabolic stressors can trigger PCT in CDA II patients with possible hepatic involvement, underscoring the importance of recognizing combined genetic and infectious factors in rare hematologic disorders.
2025-04-25 | Metabolic disorders
Inborn errors of metabolism are rare. Neurological and gastrointestinal features are common. Neurological manifestations include lethargy, coma, developmental delay, ataxia and weakness. Jaundice, hepato-splenomegaly, vomiting and diarrhoea are the common gastrointestinal manifestations. Porphyria cutanea tarda is an iron-dependent disease which usually presents in mid or late adulthood. The classic presentation is with a blistering skin rash or hyperpigmentation in sun-exposed areas. Gaucher's disease is the most common lysosomal storage disease, highly prevalent in patients of Ashkenazi Jewish descent. An autosomal recessive disorder caused by a mutation in the glucocerebrosidase gene (found on chromosome 1q21). Hurler's syndrome is the severe form of type I mucopolysacchari doses, also known as gargoylism. Autosomal disease is due to the absence of the gene that encodes for the low-density lipoprotein (LDL) receptor. Total cholesterol and LDL levels are increased.
2023-07-03 | A Rare Case of Hereditary Hemochromatosis Presenting With Porphyria Cutanea Tarda
Hereditary hemochromatosis is an autosomal recessive condition with incomplete penetrance that is most commonly caused by a mutation in the HFE gene. Hereditary hemochromatosis can remain asymptomatic in some patients until triggered by certain events. Porphyria cutanea tarda is a condition that can lead to iron overload due to defective synthesis of heme and can cause the onset of adult-onset hereditary hemochromatosis. Herein, we present a case where a 77-year-old man presented with painful blisters on the sun-exposed areas of his hands and was diagnosed with porphyria cutanea tarda. Further testing for mutations in the HFE gene given elevated ferritin was performed and returned positive, which confirmed the diagnosis of adult-onset hereditary hemochromatosis. The patient received serial therapeutic phlebotomy for iron overload and adopted lifestyle modifications such as avoiding sun exposure of upper extremities. The patient's blisters and laboratory iron panel parameters improved with continued phlebotomy. Therapeutic phlebotomy has been demonstrated to be an effective first-line therapy in patients with dual diagnosis. Our case highlights that cutaneous symptoms due to porphyria cutanea tarda may be the first presenting symptom in patients with underlying hemochromatosis.
2022-12-15 | Deferasirox Nanosuspension Loaded Dissolving Microneedles for Intradermal Delivery
Microneedles are minimally invasive systems that can deliver drugs intradermally without pain and bleeding and can advantageously replace the hypodermal needles and oral routes of delivery. Deferasirox (DFS) is an iron chelator employed in several ailments where iron overload plays an important role in disease manifestation. In this study, DFS was formulated into a nanosuspension (NSs) through wet media milling employing PVA as a stabilizer and successfully loaded in polymeric dissolving microneedles (DMNs). The release studies for DFS-NS clearly showed a threefold increased dissolution rate compared to pure DFS. The mechanical characterization of DFS-NS-DMNs revealed that the system was sufficiently strong for efficacious skin penetration. Optical coherence tomography images confirmed an insertion of up to 378 µm into full-thickness porcine skin layers. The skin deposition studies showed 60% drug deposition from NS-DMN, which was much higher than from the DFS-NS transdermal patch (DFS-NS-TP) (without needles) or pure DFS-DMNs. Moreover, DFS-NS without DMNs did not deposit well inside the skin, indicating that DMNs played an important role in effectively delivering drugs inside the skin. Therefore, it is evident from the findings that loading DFS-NS into novel DMN devices can effectively deliver DFS transdermally.
2022-08-17 | Case Report: Treatment of porphyria cutanea tarda with low dose hydroxychloroquine
Background: Porphyria cutanea tarda (PCT) is a complex metabolic disease resulting from altered activity of the enzyme uroporphyrinogen decarboxylase (UROD) in the liver resulting in accumulation of uroporphyrin. PCT presents as a blistering photodermatitis with skin fragility, vesicles, scarring and milia. Case: We report a case of PCT in a 67-year-old man with hemochromatosis (HFE) gene mutation who, following a major syncopal episode in response to venesection was commenced on low dose hydroxychloroquine. Conclusions: Low dose hydroxychloroquine provided a safe and effective alternative to venesection in this patient who was needle phobic.
cell therapies
2023-04-04 | Therapeutic Phlebotomy Revisited: A Review
Therapeutic phlebotomy is the removal of red blood cells or serum iron from the blood. It is one of the preferred treatments for blood disorders. In ancient times this process was known as bloodletting. Generalized method included were venesection and arteriotomy and systemic methods included were cupping and by leeches. It stimulates bone marrow stem cells to generate new red blood cells (RBCs). Iron for hemoglobin synthesis is taken from the body thus reducing serum iron. Different indications of therapeutic phlebotomy include Polycythemia Vera, Hemochromatosis, Porphyria cutanea tarda, Sickle cell disease, Non-Alcoholic Fatty liver disease (NAFLD) with hyperferritinemia. Other methods available for reducing RBC and iron level include apheresis and administration of desferroxamine. Phlebotomy can cause rare adverse effects, such as thrombosis, mostly seen in patients with polycythemia Vera. Other adverse effects include Hematoma at phlebotomy site. Usually hematoma is mild but in severe cases can cause damage in nerves and surrounding tissue. Haemoconcentration, extravasation, Syncope and Fainting, petechiae, Excessive Bleeding, edema, arterial puncture, pain and anemia are some of the adverse effects caused by therapeutic phlebotomy. Unsafe phlebotomy can expose patients and health workers to various infections like Hepatitis B virus (HBV), Hepatitis C virus (HCV) and Human Immunodeficiency virus (HIV); syphilis and malaria. Different countries have approved allogenic use of blood units obtained from therapeutic phlebotomy. Mostly blood collected from patients with hemochromatosis is permitted. The article also discusses criteria for initiating therapeutic phlebotomy and various regimen followed in different diseases.
2008-04-22 | Measurement of Liver Iron Content by Magnetic Resonance Imaging in 20 Patients with Overt Porphyria Cutanea Tarda before Phlebotomy Therapy: A Prospective Study
Liver iron content was evaluated by a magnetic resonance imaging-based method in 20 consecutive patients with either sporadic or familial porphyria cutanea tarda. Serum ferritin, hepatitis C infection and the presence of the 2 main mutations of the hemochromatosis gene were also investigated. All patients showed good clinical response to phlebotomy. Initial liver iron content was normal (< 40 micromol/g) in 9 cases, slightly increased (40-59 micromol/g) in 3 cases, moderately increased (60-99 micromol/g) in 6 cases or markedly increased (100-199 micromol/g) in 2 cases). The ferritin level was raised (> 400 ng/ml) in 14/20 patients and there was no obvious relationship with liver iron. Increased liver iron content was observed more frequently in patients with hemochromatosis mutation and less frequent in those with hepatitis C infection. Clinical response to phlebotomies was slightly better in patients with increased liver iron content even slightly, but patients with normal liver iron content also responded well, which suggests that iron depletion is an outstanding treatment independent of liver iron content. This study shows that increased liver iron content is not a constant finding in patients with porphyria cutanea tarda, especially in women, and that it is not a prerequisite for the efficiency of phlebotomy.
2007-08-30 | Liver transplantation for porphyria: Who, when, and how?
Porphyrias are a heterogenous group of diseases that may result in disabling or life threatening neurovisceral symptoms and/or cutaneous photosensitivity. In acute intermittent porphyria, the clinical features, particularly neurological symptoms, may be life-threatening and disabling. Conventional treatment with human hemin, though effective in reducing symptoms, does not reverse neuropathy when structural nerve damage has occurred and may cause intense phlebitis. Liver transplantation (LT) may be considered as treatment for those with repeated life-threatening acute attacks resulting in poor quality of life, requirement of ventilatory support, and progressive loss of venous access due to hemin infusion. Patients with variegate porphyria (VP) present after puberty with neurovisceral symptoms and skin manifestations. LT resolved VP in the 1 patient reported in the literature. Aminolaevulinic acid dehydratase deficient porphyria is a rare autosomal recessive disorder and a child who presented with failure to thrive and required transfusions and parenteral nutrition did not improve with LT. In erythropoietic protoporphyria (EPP), there is excessive production of protoporphyrin in the bone marrow. Protoporphyrin is hepatotoxic and pigment loading of hepatocytes and bile canalicular sludging may result in progressive cholestasis and cirrhosis. LT is beneficial for such patients with end-stage liver disease. Perioperative management includes use of filters on operative lights to prevent skin burns and intestinal perforation. Other concerns include development of neuropathy, biliary complications, and recurrent liver disease. This review addresses the rationale, patient selection, evaluation, management issues, and technique of performing LT in various types of porphyria.
1992-11-01 | Childhood-onset familial porphyria cutanea tarda: Effects of therapeutic phlebotomy
Cutaneous fragility at age 2 years with blistering, scarring, milia, and hypertrichosis at age 4 years were noted in an otherwise healthy girl who had no family history of porphyria. Results of porphyrin analyses of urine, serum, and red blood cells revealed a pattern consistent with porphyria cutanea tarda. Red blood cell uroporphyrinogen decarboxylase activity was diminished to approximately 50% of normal in the child and in her mother and maternal grandmother, who were without symptoms; activity was normal in her sister, father, and maternal grandfather. Therapeutic phlebotomies were followed by a biochemical and clinical remission.
1989-11-30 | Abnormal systemic metabolism of iron, porphyrin, and calcium in Fahr's syndrome.
Striopallidodentate calcinosis (Fahr's disease) is characterized clinically by seizures, rigidity, and dementia and pathologically by mineral deposition in the basal ganglia, dentate nucleus, and cerebral cortex. Disorders of iron and calcium-phosphate metabolism are thought to play a role in its pathogenesis. We present the case of a patient with familial striopallidodentate calcinosis who had porphyria cutanea tarda, refractory anemia, and pseudohypoparathyroidism type 2. The serum level of ferritin was markedly increased, serum iron and iron-binding capacity were below normal, and at autopsy she had deposition of iron in liver, spleen, bone marrow, and brain. She showed intermittent mild hypocalcemia, increased serum values of parathyroid hormone, elevated renal tubular reabsorption of phosphate, and low serum levels of 1,25-dihydroxyvitamin D, suggesting blunted renal responsiveness to endogenous parathyroid hormone. Pseudohypoparathyroidism type 2 was confirmed by infusion of synthetic parathyroid hormone, which gave a normal urinary cyclic adenosine monophosphate response, but a blunted phosphaturic response. After splenectomy for hypersplenism and weekly phlebotomies, she showed progressive improvement in function, mental status, weight, and seizure control. The hypothesis advanced is that the underlying pathophysiology of the separate diseases contributed to the formation of the brain stones through mechanisms of defective iron transport and free radical production.
small molecules
2026-07-28 | Case Report: HCV-triggered porphyria cutanea tarda in a patient with SEC23B-mutated congenital dyserythropoietic anemia type II.
Porphyria cutanea tarda (PCT) is a hepatic porphyria often triggered by hepatitis C virus (HCV) infection, iron overload, or environmental exposure. Congenital dyserythropoietic anemia type II (CDA II) caused by SEC23B mutations leads to ineffective erythropoiesis and secondary iron accumulation. We report a 34-year-old man with genetically confirmed SEC23B-mutated CDA II who developed photosensitive bullae associated with chronic HCV genotype 1b infection, hyperbilirubinemia, and severe iron overload. Urinary porphyrins were positive, and skin biopsy showed subepidermal bullae with PAS-positive deposits, supporting the diagnosis of PCT. After unsuccessful therapy with hydroxychloroquine, treatment with sofosbuvir/velpatasvir achieved sustained virologic response, resolution of skin lesions, and marked ferritin reduction. This case illustrates that viral and metabolic stressors can trigger PCT in CDA II patients with possible hepatic involvement, underscoring the importance of recognizing combined genetic and infectious factors in rare hematologic disorders.
2025-04-25 | Metabolic disorders
Inborn errors of metabolism are rare. Neurological and gastrointestinal features are common. Neurological manifestations include lethargy, coma, developmental delay, ataxia and weakness. Jaundice, hepato-splenomegaly, vomiting and diarrhoea are the common gastrointestinal manifestations. Porphyria cutanea tarda is an iron-dependent disease which usually presents in mid or late adulthood. The classic presentation is with a blistering skin rash or hyperpigmentation in sun-exposed areas. Gaucher's disease is the most common lysosomal storage disease, highly prevalent in patients of Ashkenazi Jewish descent. An autosomal recessive disorder caused by a mutation in the glucocerebrosidase gene (found on chromosome 1q21). Hurler's syndrome is the severe form of type I mucopolysacchari doses, also known as gargoylism. Autosomal disease is due to the absence of the gene that encodes for the low-density lipoprotein (LDL) receptor. Total cholesterol and LDL levels are increased.
2023-07-03 | A Rare Case of Hereditary Hemochromatosis Presenting With Porphyria Cutanea Tarda
Hereditary hemochromatosis is an autosomal recessive condition with incomplete penetrance that is most commonly caused by a mutation in the HFE gene. Hereditary hemochromatosis can remain asymptomatic in some patients until triggered by certain events. Porphyria cutanea tarda is a condition that can lead to iron overload due to defective synthesis of heme and can cause the onset of adult-onset hereditary hemochromatosis. Herein, we present a case where a 77-year-old man presented with painful blisters on the sun-exposed areas of his hands and was diagnosed with porphyria cutanea tarda. Further testing for mutations in the HFE gene given elevated ferritin was performed and returned positive, which confirmed the diagnosis of adult-onset hereditary hemochromatosis. The patient received serial therapeutic phlebotomy for iron overload and adopted lifestyle modifications such as avoiding sun exposure of upper extremities. The patient's blisters and laboratory iron panel parameters improved with continued phlebotomy. Therapeutic phlebotomy has been demonstrated to be an effective first-line therapy in patients with dual diagnosis. Our case highlights that cutaneous symptoms due to porphyria cutanea tarda may be the first presenting symptom in patients with underlying hemochromatosis.
2022-12-15 | Deferasirox Nanosuspension Loaded Dissolving Microneedles for Intradermal Delivery
Microneedles are minimally invasive systems that can deliver drugs intradermally without pain and bleeding and can advantageously replace the hypodermal needles and oral routes of delivery. Deferasirox (DFS) is an iron chelator employed in several ailments where iron overload plays an important role in disease manifestation. In this study, DFS was formulated into a nanosuspension (NSs) through wet media milling employing PVA as a stabilizer and successfully loaded in polymeric dissolving microneedles (DMNs). The release studies for DFS-NS clearly showed a threefold increased dissolution rate compared to pure DFS. The mechanical characterization of DFS-NS-DMNs revealed that the system was sufficiently strong for efficacious skin penetration. Optical coherence tomography images confirmed an insertion of up to 378 µm into full-thickness porcine skin layers. The skin deposition studies showed 60% drug deposition from NS-DMN, which was much higher than from the DFS-NS transdermal patch (DFS-NS-TP) (without needles) or pure DFS-DMNs. Moreover, DFS-NS without DMNs did not deposit well inside the skin, indicating that DMNs played an important role in effectively delivering drugs inside the skin. Therefore, it is evident from the findings that loading DFS-NS into novel DMN devices can effectively deliver DFS transdermally.
2022-08-17 | Case Report: Treatment of porphyria cutanea tarda with low dose hydroxychloroquine
Background: Porphyria cutanea tarda (PCT) is a complex metabolic disease resulting from altered activity of the enzyme uroporphyrinogen decarboxylase (UROD) in the liver resulting in accumulation of uroporphyrin. PCT presents as a blistering photodermatitis with skin fragility, vesicles, scarring and milia. Case: We report a case of PCT in a 67-year-old man with hemochromatosis (HFE) gene mutation who, following a major syncopal episode in response to venesection was commenced on low dose hydroxychloroquine. Conclusions: Low dose hydroxychloroquine provided a safe and effective alternative to venesection in this patient who was needle phobic.
cell therapies
2023-04-04 | Therapeutic Phlebotomy Revisited: A Review
Therapeutic phlebotomy is the removal of red blood cells or serum iron from the blood. It is one of the preferred treatments for blood disorders. In ancient times this process was known as bloodletting. Generalized method included were venesection and arteriotomy and systemic methods included were cupping and by leeches. It stimulates bone marrow stem cells to generate new red blood cells (RBCs). Iron for hemoglobin synthesis is taken from the body thus reducing serum iron. Different indications of therapeutic phlebotomy include Polycythemia Vera, Hemochromatosis, Porphyria cutanea tarda, Sickle cell disease, Non-Alcoholic Fatty liver disease (NAFLD) with hyperferritinemia. Other methods available for reducing RBC and iron level include apheresis and administration of desferroxamine. Phlebotomy can cause rare adverse effects, such as thrombosis, mostly seen in patients with polycythemia Vera. Other adverse effects include Hematoma at phlebotomy site. Usually hematoma is mild but in severe cases can cause damage in nerves and surrounding tissue. Haemoconcentration, extravasation, Syncope and Fainting, petechiae, Excessive Bleeding, edema, arterial puncture, pain and anemia are some of the adverse effects caused by therapeutic phlebotomy. Unsafe phlebotomy can expose patients and health workers to various infections like Hepatitis B virus (HBV), Hepatitis C virus (HCV) and Human Immunodeficiency virus (HIV); syphilis and malaria. Different countries have approved allogenic use of blood units obtained from therapeutic phlebotomy. Mostly blood collected from patients with hemochromatosis is permitted. The article also discusses criteria for initiating therapeutic phlebotomy and various regimen followed in different diseases.
2008-04-22 | Measurement of Liver Iron Content by Magnetic Resonance Imaging in 20 Patients with Overt Porphyria Cutanea Tarda before Phlebotomy Therapy: A Prospective Study
Liver iron content was evaluated by a magnetic resonance imaging-based method in 20 consecutive patients with either sporadic or familial porphyria cutanea tarda. Serum ferritin, hepatitis C infection and the presence of the 2 main mutations of the hemochromatosis gene were also investigated. All patients showed good clinical response to phlebotomy. Initial liver iron content was normal (< 40 micromol/g) in 9 cases, slightly increased (40-59 micromol/g) in 3 cases, moderately increased (60-99 micromol/g) in 6 cases or markedly increased (100-199 micromol/g) in 2 cases). The ferritin level was raised (> 400 ng/ml) in 14/20 patients and there was no obvious relationship with liver iron. Increased liver iron content was observed more frequently in patients with hemochromatosis mutation and less frequent in those with hepatitis C infection. Clinical response to phlebotomies was slightly better in patients with increased liver iron content even slightly, but patients with normal liver iron content also responded well, which suggests that iron depletion is an outstanding treatment independent of liver iron content. This study shows that increased liver iron content is not a constant finding in patients with porphyria cutanea tarda, especially in women, and that it is not a prerequisite for the efficiency of phlebotomy.
2007-08-30 | Liver transplantation for porphyria: Who, when, and how?
Porphyrias are a heterogenous group of diseases that may result in disabling or life threatening neurovisceral symptoms and/or cutaneous photosensitivity. In acute intermittent porphyria, the clinical features, particularly neurological symptoms, may be life-threatening and disabling. Conventional treatment with human hemin, though effective in reducing symptoms, does not reverse neuropathy when structural nerve damage has occurred and may cause intense phlebitis. Liver transplantation (LT) may be considered as treatment for those with repeated life-threatening acute attacks resulting in poor quality of life, requirement of ventilatory support, and progressive loss of venous access due to hemin infusion. Patients with variegate porphyria (VP) present after puberty with neurovisceral symptoms and skin manifestations. LT resolved VP in the 1 patient reported in the literature. Aminolaevulinic acid dehydratase deficient porphyria is a rare autosomal recessive disorder and a child who presented with failure to thrive and required transfusions and parenteral nutrition did not improve with LT. In erythropoietic protoporphyria (EPP), there is excessive production of protoporphyrin in the bone marrow. Protoporphyrin is hepatotoxic and pigment loading of hepatocytes and bile canalicular sludging may result in progressive cholestasis and cirrhosis. LT is beneficial for such patients with end-stage liver disease. Perioperative management includes use of filters on operative lights to prevent skin burns and intestinal perforation. Other concerns include development of neuropathy, biliary complications, and recurrent liver disease. This review addresses the rationale, patient selection, evaluation, management issues, and technique of performing LT in various types of porphyria.
1992-11-01 | Childhood-onset familial porphyria cutanea tarda: Effects of therapeutic phlebotomy
Cutaneous fragility at age 2 years with blistering, scarring, milia, and hypertrichosis at age 4 years were noted in an otherwise healthy girl who had no family history of porphyria. Results of porphyrin analyses of urine, serum, and red blood cells revealed a pattern consistent with porphyria cutanea tarda. Red blood cell uroporphyrinogen decarboxylase activity was diminished to approximately 50% of normal in the child and in her mother and maternal grandmother, who were without symptoms; activity was normal in her sister, father, and maternal grandfather. Therapeutic phlebotomies were followed by a biochemical and clinical remission.
1989-11-30 | Abnormal systemic metabolism of iron, porphyrin, and calcium in Fahr's syndrome.
Striopallidodentate calcinosis (Fahr's disease) is characterized clinically by seizures, rigidity, and dementia and pathologically by mineral deposition in the basal ganglia, dentate nucleus, and cerebral cortex. Disorders of iron and calcium-phosphate metabolism are thought to play a role in its pathogenesis. We present the case of a patient with familial striopallidodentate calcinosis who had porphyria cutanea tarda, refractory anemia, and pseudohypoparathyroidism type 2. The serum level of ferritin was markedly increased, serum iron and iron-binding capacity were below normal, and at autopsy she had deposition of iron in liver, spleen, bone marrow, and brain. She showed intermittent mild hypocalcemia, increased serum values of parathyroid hormone, elevated renal tubular reabsorption of phosphate, and low serum levels of 1,25-dihydroxyvitamin D, suggesting blunted renal responsiveness to endogenous parathyroid hormone. Pseudohypoparathyroidism type 2 was confirmed by infusion of synthetic parathyroid hormone, which gave a normal urinary cyclic adenosine monophosphate response, but a blunted phosphaturic response. After splenectomy for hypersplenism and weekly phlebotomies, she showed progressive improvement in function, mental status, weight, and seizure control. The hypothesis advanced is that the underlying pathophysiology of the separate diseases contributed to the formation of the brain stones through mechanisms of defective iron transport and free radical production.
Access all drug discovery papers and probability of success in trials forecasts:
Access all drug discovery papers and probability of success in trials forecasts:
Drug Discovery Landscape
0 orphan drug designations.
0 orphan drug designations.
Let's accelerate rare disease drug discovery
Let's accelerate drug discovery
Get access to Explority AI’s forecasts to outperform average preclinical success rates. Whether you’re expanding your R&D pipeline, evaluating a partnership, or simply have a question — we’d love to hear from you.