पोर्फिरिया: पोर्फिरिया हा दुर्मिळ अनुवंशिक आजार आहे. तीव्र पोटदुखी, उलट्या, लालसर-तपकिरी लघवी, अशक्तपणा किंवा उन्हात त्वचेवर फोड ही लक्षणे आहेत. काही औषधे टाळणे आवश्यक असते.
पोर्फिरिया: पोर्फिरिया एक दुर्लभ आनुवंशिक रोग है। तेज़ पेट दर्द, उल्टी, लाल-भूरा पेशाब, कमज़ोरी या धूप में त्वचा पर छाले इसके लक्षण हैं।
Porphyrias are rare inherited disorders of haem production.
Types and symptoms
- Acute porphyrias (such as acute intermittent porphyria): attacks of severe abdominal pain, vomiting, constipation, fast heart rate, high blood pressure, reddish-brown urine, confusion or muscle weakness. Attacks are triggered by certain medicines, fasting, alcohol, infections or hormonal changes.
- Cutaneous porphyrias: blisters, fragile skin and scarring on sun-exposed areas.
Diagnosis
Urine porphobilinogen (PBG) during symptoms, plasma and stool porphyrins, and genetic testing.
Management
- Treatment of acute attacks with glucose and haemin in hospital, plus pain and symptom control
- A list of safe and unsafe medicines for every patient
- Avoiding fasting, alcohol and known triggers; family screening