RESULTATS ET ANALYSE
ANNEXE 2 : TRAITEMENT D'UNE CRISE AIGUE DE PORPHYRIE SANS COMPLICATION : NOUVEAU PROTOCOLE [10]
99. Androutsos G., Les troubles génito-urinaires de Jean-Jacques Rousseau (1712–
1788) sous l’aspect d’un nouveau diagnostic. Andrologie, 2004. 14(4): p. 452.
100. CONVERT H. and C. VÉDIE, Une porphyrie démentielle ou manifestations
psychiatriques chroniques de la porphyrie. À propos d’un cas. . L'Encephale,
2014. 40: p. 345-350.
101. LAPRESLE J., Manifestations nerveuses des porphyries. . PRESSE
MEDICALE 1950. 58(78): p. 1377.
102. Cornil A., et al., Syndrome de Schwartz-Bartter au cours d'une porphyrie aiguë
intermittente. Acta Clinica Belgica, 1965. 20(4): p. 287-299.
103. BAILLIVET J. and R. MICHIELS, Porphyrie aigue familiale. Traitement par
120
104. DURET-COSYNS S. and R. DURET, Etude psychiatrique de la porphyrie
essentielle. Ann Med Psychol, 1959. 2: p. 193-212.
105. Denny-Brown D. and D. Sciarra, Changes in the nervous system in acute
porphyria. Brain, 1954. 68(1): p. 1-16.
106. Discombe G. and J.L. D'Silva, Acute idiopathic porphyria. British medical
journal, 1945. 2(4423): p. 491-493.
107. MUSTAJOKI P., Variegate porphyria. . Annals of internal medicine, 1978, vol.
89, no 2, p. 238-244., 1978. 89(2): p. 238-244.
108. Dawit S., et al., Nonconvulsive status epilepticus secondary to acute porphyria
crisis. Epilepsy & behavior case reports, 2019. 11: p. 43-46.
109. GOLDBERG A., Acute intermittent porphyria : A study of filthy cases. QJM:
An International Journal of Medicine. 1959. 28(2): p. 183.
110. BOULIN R., J. BESANCON, and G. NEPVEUX, Coproporphyrinurie traitée
par la vitamine PP Bull et Men Soc. Med Hop. Paris, 1939. 10: p. 474-479.
111. Babaei S.A., M. Rondeau-Lutz, and H. Merdji, Symptômes psychiatriques
accompagnant une crise de porphyrie aiguë intermittente. Annales françaises
de médecine d’urgence, 2018. 8(3): p. 181-183.
112. CARRERE J., Des manifestations neuropsychiatriques de porphyries. Imprim
du Vigier, 1661.
113. FREEMANN J. and L. KOLB, Acute intermittent porphyria associated
psychiatric syndromes treated with electro shock. Proceedings of the staff
121
114. BERNARD H., A. GAJDOS, and G.-T. M., Porphyrie - Etude chimique et
biologique. Edition Bailliere et Fils , Paris 1958: p. 42-43.
115. COTTIER P. and E. BLASER, Die Nierenfunktion bei einem Fall von akuter
Porphyrie mit Hypertonie. Helv. Med. Acta., 1955. 22: p. 505.
116. Linquette M., et al., Poussée d'hyperazotémie au cours de l'évolution d'une
porphyrie aigue intermittente. LILLE Med., 1954: p. 10;631-632.
117. WIART J., La porphyrie aigue intermittente : Manifestations
cardio-vasculaires. Thèse Med Nantes, 1963.
118. BASTIEN J., Le syndrome neurologique de la porphyrie aigue intermittente : A
propos de 3 observations. These. Fac Medecine , Université Paul Sabatier
Toulouse , N° 304, 1977.
119. GAYRAL L., et al., Les manifestations neurologiques et psychiatriques de la
porphyrie idiopathique. Toulouse Med., 1963. 64: p. 229-322.
120. Chauveau, D., et al., Manifestations rénales des maladies héréditaires du
métabolisme chez l’adulte. Flammarion médecine sciences–Actualités
néphrologiques. Paris, 2004: p. 119-142.
121. Bartter F. and W. Schwartz, The syndrome of inappropriate secretion of
antidiuretic hormone. The American journal of medicine, 1967. 42(5): p.
790-806.
122. Centre Francais De Porphyries. Porphyrines. 2015; Available from:
http://www.porphyrie.net/
123. Thunell S., et al., Porphyrins, porphyrin metabolismand porphyrias. Scand J
122
124. Namba H., et al., Assignment of human porphobilinogen deaminase to 11q24.
1→ q24. 2 by in situ hybridization and gene dosage studies. Cytogenetic and
Genome Research, 1991. 57(2-3): p. 105-108.
125. GRANDCHAMP B., et al., Tissue‐specific expression of porphobilinogen
deaminase: two isoenzymes from a single gene. European journal of
biochemistry, 1987. 162(1): p. 105-110.
126. Grandchamp B., et al., Tissue-specific splicing mutation in acute intermittent
porphyria. Proceedings of the National Academy of Sciences, 1989. 86(2): p.
661-664.
127. Puy H., et al., Molecular epidemiology and diagnosis of PBG deaminase gene
defects in acute intermittent porphyria. The American Journal of Human
Genetics, 1997. 60(6): p. 1373-1383.
128. Lindberg R.L., et al., Porphobilinogen deaminase deficiency in mice causes a
neuropathy resembling that of human hepatic porphyria. Nature genetics, 1996.
12(2): p. 195.
129. Sassa S., et al., Studies in porphyria. IV. Expression of the gene defect of acute
intermittent porphyria in cultured human skin fibroblasts and amniotic cells: prenatal diagnosis of the porphyric trait. Journal of Experimental Medicine,
1975. 142(3): p. 722-731.
130. Geslin N., et al., Sécrétion inappropriée d'hormone antidiurétique révélatrice
d'une porphyrie aiguë intermittente. La Revue de médecine interne, 1986. 7(1):
123
131. EALES L. and E. DOWDLE, The acute porphyric attack I. The electrolyte
disorder of the acute porphyric attack and the possible role of delta-aminolaevulic acid. South African medical journal= Suid-Afrikaanse tydskrif
vir geneeskunde, 1971: p. 89.
132. Day R., L. Eales, and P. Disler, Porphyrias and the kidney Nephron, 1981. 28(6): p. 261-267.
133. EALES L. and E. DOWDLE, Electrolyte abnormalities in porphyria. LANCET
1969. 1: p. 51.
134. Barois A., et al., Hypercalcémie au cours de la porphyrie aigüe intermittente: A
propus de 3 observations. . Semin Hosp Paris, 1977. 53(1115).
135. BERMAN S. and L. EALS, Neurological disorders in porphyria . A brief
chimical survey of 81 cases. VIIe Congres international de neurologie , Rome,
1961.
136. HIERONS R., Changes in the nervous system in acute porphyria. BRAIN,
1957. 80(2): p. 11;80.
137. KARIBIAN D. and J. LONDON, Controle of heme synthesis by feedbacks in
inhibition. Biochemical and biophysical research communications, 1965. 18(2):
p. 243-249.
138. KAEBLING R., J. CRAIG, and B. PASAMANICK, Urinary porphobilinogen:
results of screening 2,500 psychiatric patients. Archives of general psychiatry,
1961. 5.5.: p. 494.
139. O'Leary J., Changing status of electroencephalography in neurologic practice.
124
140. Rey-Bellet T., L'electroencephalogramme dans la porphyrie aigue intermittente. Schweiz Med. Wocheschr, 1964. 94: p. 1134.
141. ZEGGWAGH A. and O. KERKEB, PORPHYRIE AIGUE INTERMITTENTE
REVELEE PAR UNE INTOXICATION AIGUE MEDICAMENTEUSE. A propos d’un cas. 1993, (38).
142. Maytham L., Electrodiagnostic findings in porphyria. . South African Medical
Journal, 1971. 45(1): p. 99-100.
143. El Amrani M., Les manifestations neurologiques de la porphyrie aigue
intermittente. Thèse Medecine Rabat N°402, 1989.
144. Vittori F. and Coll, Lupus erythémateux disséminé et porphyrie aigue
intermittente : Association ou coincidence ? Sem. Hop. Paris 53
N°25-26-27-28, 1977: p. 1542-1548.
145. Basiliere J. and A. Newcomer, Primary aldosteroisme asociated with acute
intermittente porphyria. New England Journal of Medecine, 1971. 285: p.
595-598.
146. Fry D. and V. Marks, Serum protein bound in acute intermittent porphyria. J.
Endocr, 1954. 24: p. 808.
147. Hellman E., et al., Elevation of the serum protein-bound iodine in acute
intermittent porphyria. The Journal of Clinical Endocrinology & Metabolism
1963. 23(12): p. 1185-1191.
148. Chaput J., et al., Porphyrie aigue intermittente associée à une anémie de
Biermer. Sem. Hop. Paris 1972. 48: p. 3525-3530.
149. Gajdos A. and T. Gajdos, Conférence internationale sur les porphyries Cape
125
150. Stein J. and D. Tshudy, Acute intermittent porphyria : a clinical and
biochimical study of 46 patients. Medicine 1970. 49(1): p. 1-16.
151. Wolfram S., Uber Porphyrinkolik; Ein Beitrag zur Symptomatologie des
Erythematodes acutus. hautarzt, 1952. 3(7): p. 298-300.
152. CRAM D.L., EPSTEIN, John H., et TUFFANELLI, Denny L, Lupus
erythematosus and porphyria: Coexistence in seven patients. . Archives of
dermatology, 1973. 108(6): p. 779-784.
153. JABLONSKA S. et CHORZELSKI P. Lupus erythematosus. In : Immunological aspects of skin diseases. Springer, Dordrecht. 1974. p. 66-152.
154. Linden I., et al., Development of porphyria during chloroquine therapy for
chronic discoid lupus erythematosus. California medicine, 1954. 81(3): p.
235-238.
155. Harris M. and Coll, Coexistence systemic erythematosus and porphyria. Arch
Intern. Med, 1966. 117: p. 425-428.
156. Zelligmani L., Urinary excretion of porphyrin in dermatoses. Archives of
dermatology and syphilology, 1946. 54(3): p. 281-291.
157. Kanskk A., Porphyrin Ausscheidung im harn bei erythematodes discoides
chronicus. Hantarzt 1961: p. 12;231.
158. Laafi J., et al., Pro-oxidant effect of ALA is implicated in mitochondrial
dysfunction of HepG2 cells. Biochimie, 2014. 106: p. 157-166.
159. Danion F., et al., An uncommon option for surviving bariatric surgery:
126
160. Balwani M. and J. Desnick Robert, The porphyrias: advances in diagnosis and
treatment. Blood, 2012: p. blood-2012-05-423186.
161. Nordmann Y., H. Puy, and J. Deybach, Traitement des porphyries hépatiques
aigües en crise par l'hème-arginate (normosang). Médecine et chirurgie
digestives, 1995. 24(3): p. 167-169.
162. Jiang L., et al., Systemic messenger RNA as an etiological treatment for acute
intermittent porphyria. Nature medicine, 2018. 24(12): p. 1899.
163. Yasuda M., et al., RNAi-mediated silencing of hepatic Alas1 effectively prevents
and treats the induced acute attacks in acute intermittent porphyria mice.
Proceedings of the National Academy of Sciences, 2014. 111(21): p. 7777-7782.
164. Unzu C., et al., Helper-dependent adenovirus achieve more efficient and
persistent liver transgene expression in non-human primates under immunosuppression. Gene therapy, 2015. 22(11): p. 856.
165. Puy H., J.-C. Deybach, and L. Gouya, Systemic Administered mRNA as Therapy
for Metabolic Diseases. Trends in molecular medicine, 2019. 25(1): p. 3-5.
166. Desnick R., et al., Étude de phase 1/2 et d’extension en ouvert du Givosiran, un
agent thérapeutique ARNi expérimental chez des patients atteints de porphyrie aiguë intermittente. La Revue de Médecine Interne, 2018. 39: p. A186.
167. Sardh E., et al., Phase 1 Trial of an RNA Interference Therapy for Acute
Intermittent Porphyria. New England Journal of Medicine, 2019. 380(6): p.
127
168. Andant C., et al., Hepatocellular carcinoma in patients with acute hepatic
porphyria: frequency of occurrence and related factors. Journal of hepatology,
2000. 32(6): p. 933-939.
169. Andant C., et al., Acute hepatic porphyrias and primary liver cancer. New
England Journal of Medicine, 1998. 338(25): p. 1853-1854.
170. Deybach J.C. and H. Puy, Hepatocellular carcinoma without cirrhosis: think
acute hepatic porphyrias and vice versa. Journal of internal medicine, 2011.
269(5): p. 521-524.
171. Carichon M., et al., Urinary Metabolic Fingerprint of Acute Intermittent
Porphyria Analyzed by 1H NMR Spectroscopy. Analytical chemistry, 2014.
86(4): p. 2166-2174.
172. Pallet N., et al., High prevalence of and potential mechanisms for chronic
kidney disease in patients with acute intermittent porphyria. Kidney
international, 2015. 88(2): p. 386-395.
173. Innala E. and C. Andersson, Screening for hepatocellular carcinoma in acute
intermittent porphyria: a 15‐year follow‐up in northern Sweden. Journal of
internal medicine, 2011. 269(5): p. 538-545.
174. Andersson C., E. Innala, and T. Bäckström, Acute intermittent porphyria in
women: clinical expression, use and experience of exogenous sex hormones. A population‐based study in northern Sweden. Journal of internal medicine, 2003.
254(2): p. 176-183.