Le Porfirie ed il rene

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Pubblicato il 10 novembre 2016

Porphyrias and the Kidney

Le Porfirie ed il rene

Porphyrias and the Kidney

Caterina Canavese

Cattedra e Scuola di Specializzazione in Nefrologia, Università del Piemonte Orientale

Corrispondenza a: Caterina Canavese; E-mail: ccanavese@hotmail.com

Introduzione

Le Porfirie appartengono alla categoria di quelle malattie "sommerse” dai contorni sfumati, vagamente correlate con "lesioni cutanee bollose", i vampiri, Van Gogh, il libro “Paula” di Isabel Allende, con rara opportunità di diagnosi nella pratica clinica, patogenesi non chiarita, e opzioni terapeutiche molto contenute. L'obiettivo di questo incontro è quello di richiamare ancora una volta l'attenzione sulle Porfirie, anche perché nuovi strumenti diagnostici e terapeutici potrebbero modificare la storia naturale di questa malattia, la cui prevalenza verosimilmente cambierà col tempo in funzione della nostra capacità di diagnosticarle. Abbiamo già avuto più volte l’occasione di affrontare questo argomento affascinante, sempre con l’obbiettivo , da una parte, di attirare l'attenzione , e dall’altra di stimolare quella curiosità scientifica nei confronti della conoscenza che ci consentirà p…

Tabella 1. Principali tipi di Emoproteine Umane


Emoglobina
Mioglobina
Perossidasi
Catalasi
Ciclo-ossigenasi
Triptofano diossigenasi
Nitrossido-sintetasi
Guanilato ciclasi solubile
Citocromi mitocondriali
Citocromi microsomiali ( P450s)

Tabella 2. Porfirie differenziate in Acute e Croniche

ACUTE	CRONICHE
Porfiria acuta intermittente (epatica)	Porfiria cutanea tarda (epatica)
Coproporfiria ereditaria (epatica)	Porfiria eritropoietica congenita (eritropoietica) o malattia di Gunther
Porfiria variegata (epatica)	Protoporfiria (eritroepatica)
Porfiria da deficit di ALA D

BibliografiaReferences

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Contenuti articolo

release 1
pubblicata il 10 novembre 2016
Da

Caterina Canavese

Cattedra e Scuola di Specializzazione in Nefrologia, Università del Piemonte Orientale

Corrispondenza a: Caterina Canavese; E-mail: ccanavese@hotmail.com

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Figure

Pazienti	1	2	3
età	29 aa	30aa	39 aa
Motivo del ricovero	Da 6 giorni Febbre, mialgia, sintomi respiratori urine scure, dolore addominale	10 giorni prima, dolore addominale, gastrite e dolicolon	3 giorni prima: rientra per dolore addominale, nausea, vomito,
Sodiemia / K	103 / 2.8 mmol	114 / 2.3 mmol	129/4.8 mmol
Alti esami	Cr 1 mg /dL	Cr 1.3 mg/dL	Cr 1 mg/dL
Alti esami	CK 25.000, LDH 650	CK 1320, LDH 250	CK 9570 , LDH 379
Es urine	5 litri urine rosse , Ptt + Urob+	2,5 litri urine rosse , Pt+, Urob + Osm 316	4-3 litri urine rosse, Pt+, Urob+
Prima ipotesi diagnostica	Infezione delle vie urinarie: terapia Cefalosporine, FANS	Addome acuto post-aderenze	Pancreatite: FANS, Ringer, Cefalosporine,
Complicanze	Dolore addominale, depressione, convulsioni, Terapia: novocaina, amitriptilina,carbam,idiazepam inICU	Agitazione, confusione, dolore alla schiena crampi, eritema,urine scure IN ICU	Disorientamento agitazione psico-motoria con ipotesi“psicosi tossica” in ICU
Diagnosi porfiria	Giorno 6. Stop tutti i farmaci precedenti +Glucosio e NaCl3%	Giorno 10. Stop ATB , eparina, diazepam, FANS, antiipertensivi	Giorno 4 Glucosio e NaCl3%
Follow-up	OK in giorno 10	OK in giorno 12	Ok giorno 5

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