Punjabi

DISCLAIMER
Gfofsnkr
No. 15b
The information about metabolic diseases and any other information is
intended for educational purposes only. It should not be used for diagnostic
or treatment purposes. For more detailed information on particular diseases,
contact your GP or Paediatrician.
nkjko gkue phwkohnk_ pko/ ikDekoh ns/ e'Jh j'o ikDekoh f;oc ftZfdne T[d/µk_
bJh jh b'_Vhdh j?. fJ; B{z o'r fBoXkoB ik_ fJbki d/ T[d/µk_ bJh Bjh_ tosDk
ukjhdk. ftµ/µ phwkohnk_ ;zpzXh j'o tX/o/ ikDekoh bJh nkgD/ ih gh ik_ pZfunk_ d/
vkeNo B{z ;zgoe eo'.
All information provided by Climb is copyrighted and may not be reproduced,
published, transmitted or distributed in any manner without the prior express,
written consent of Climb, although you may download the information
contained in the Climb website for your own, non-commercial use.
ebkJh_p d[nkok gqdkB ehsh ;koh ikDekoh fBih j? ns/ fJ;B{z w[V-g/µ,gqekµB,;zuko
ik_ fe;/ th soQk_ Bkb ebkJh_p d/ nrkT{_ gqrNkt/ ik_ fbysh gqtkBrh , s'_ pr?o
tzfvnk Bjh_ ik ;e/rk. Gk_t/_ s[;h_ fJj ikDekoh ebkJh_p dh t?Zp;kJhN s'_ vkT{Bb'v
eo ;ed/ j'.
Climb accepts no responsibility for any errors or omissions nor does Climb
accept any liability of any kind for the content of any information contained in
the leaflets, DVDs or other media or any use that you may make of it.
Porphyria
An information leaflet in English and Punjabi
nzrq/ih ns/ gzikph ftZu fJZe ;{uBk fJFsjko
ebkJh_p fe;/ soQk_ dh T[ekJh ik_ rbsh dh e'Jh f—zw/tkoh Bjh_ b?_dk ns/ Bk jh ebkJh_p
fJµfsjkok_,vhHthHvhH, ik_ fe;/ th j'o wkfXnw ik_ fe;/ tos'_ i' s[;h_ fJ; okjh_
eod/ j', ftu g/µ ;wZroh dh fe;/ gqeko dh jh e'Jh f—zw/tkoh b?_dk j?.
Climb is the working name of Children Living with Inherited Metabolic
Diseases – a registered charity.
ebkJh_p pZfunk_ dh f—zdrh dk fJe ekoiµhb Bkw j?, i' fe ftok;sh nkjko gkue
phwkohnk_ s/ nkXkfos –fJZe ofi;Nov dkB nkXkfos ;zrmB j?.
09/09/10
Original

Porphyria
These are a group of eight disorders where there is an excessive
accumulation of porphyrins. These are chemical compounds that
are usually converted by a series of 8 processes involving
different enzymes into heme. This is important in all cells,
particularly in the liver and bone marrow where it is used to make
haemoglobin which is the red pigment of cells. The name
“Porphyria” comes from “Porphos” which is Greek for “purple”,
this describes the colour of the porphyrins that have been
produced. In this disorder there is a deficiency in one of the
enzymes, which prevents the conversion into heme and leads to
a build up in porphyins in the body.
nZm sok_ dhnk_ p/soshphnk_ dk fJZe ;w{j fi; ftZu porphyrins dk tX/
o/ ;zrqf j' ik_dk j?. fJj o;kfJDe :'fre jB i' fe tZy' tZy gkue
o;k_ B{z µkfwb eoe/ ä gqfefonk_tk_ dh fJZe bVh d[nkok nkw s"o s/
heme ftZu spdhb ehs/ ik_/ jB. fJj ;ko/ jh ;?bk_ *u j'Dk bk—wh j?
ns/ yk; eoe/ fwjd/ ns/ jZvhnk_ dh fwZM*u j'Dk —o{oh j? fiZE/
fJj haemoglobin pDkT[D bJh fJ;s/wkb j[zdk j? i' fe ;?bk_ dk
bkb fjZ;k j?. “Porphyria” Bkw “Porphos” s'_ nkfJnk j? i' fe :{BkBh
Gkµk dk µpd *ikwBh* j? i' fe g?dk j'J/ porphyrins d/ ozr B{z
do;kT[ _dk j?.fJ; p/soshph ftZu fJZe gkue o; ftZu ewh j[zdh j? i'
fe heme ftZu spdhbh B{z o'edh j? s/ fJj ;oho ftZu porphyrins d/
tkX/ tZb b? ik_dh j?.
shpo Porphyria dk fJbki shpo jwfbnk_ dh o'eEkw s'_ puD s/
nkXkfos j?. g;hB/ dh o'eEkw pj[s —o{oh j?.fJZe ¿;[oZfyns dtkJh ;
{uh¿ shpo Porphyria ftu ;[oZfyns dtkJh b?D bJh T[gbZpX j' ;edh
j?.fJBc?eµBk_ dk ibdh jh fJbki eoBk ukjhdk j? ns/ fJ; nt;Ek
bJh gfotkoe w?_pok_ dh ik_u j'Dh ukjhdh j?.fJe rzGho jwbk nkw
s"o s/ j;gskb *u dkyb/ dh wzr eodk j?. sk_ fe bZSDk_ s'_ nkokw
fwbD bJh fJbki j' ;e/. Haem Arginate, nytkT[D tkbh dtkJh
fi;B{z Normosang th nkyd/ jB j;gskb ftZu uko fdBk_ sZe o'—kBk
fdZsh ik ;edh j?.
Treatment of the Cutaneous Porphyrias is based on preventing
symptoms and avoidance of sunlight. Those affected should
make sure skin is not exposed to sunlight. A special sun cream is
available known as Dundee Sunscreen. A specialist, preferably a
dermatologist, should be consulted on a yearly basis to test for
anaemia and a liver check both of which can be complications of
this disorder. The test for this can be done through a blood test.
Cutaneous Porphyrias dk fJbki bZSDk_ s'_ o'eEkw ns/ X[Zg s'_ pukn
s/ nkXkfos j?. gqGfts b'ek_ B{z X[Zg ftZu Bjh_ ikDk ukjhdk. Dundee
Sunscreen ti'_ ikDh ik_dh fJeZ ykk; ;Beqhw th T[gbZpX ehsh
ik ;edh j?. fJeZ wkfjo ns/ yk; eoe/ uwVh-ftd, B{z ;bkBk d/
nkXko s/ nBhwhnk ik_u s/ fwjd/ dh ik_u bJh fwbDk ukjhdk j?, i'
d't/_ fJ; p/soshph B{z r[ zMbdko pDkT[ _d/ jB. ik_u B{z y{B dh ik_u okjh_
ehsk ik ;edk j?.
The seven types are known as:
;Zs fe;wk_ fJ; soQk_ ikDhnk_ ik_dhnk_ jBL
ALA-D Porphyria
Acute Intermittent Porphyria
Congenital Erythropoietic Porphyria

Bkb ;zpzfXs j't/, fty/ ftµ/µ wkfjo dh fBrokBh *u ;zGkb dh b'V
wfj;{; eodk j?.(:{He/H ftZu fJj bzvB ns/ ekofvc ftZu ;fEs jB.)
Variegate Porphyria ns/ Hereditary Coproporphyria d't/_ jh gqw[y
o{g ftZu pkbrk_ B{z gqGkfts eod/ jB ns/ bZSDk_ ftZu uwVh d/ Skb/
ns/ c'V/ µkfwb j[zd/ jB . Erythropoietic Porphyria B{z nkN';'wb oh;?
f;t Yzr Bkb ftok;s u'_ jkf;b ehsk ik_dk j? ns/ nkw s"o s/ pZfunk_
ns/ Btiksk_ B{z gqGkfts eodk j?. dod ;{oi ;kjwD/ nkT[D d/ ÉÇ-ÑÇ
fwzNk_ ftZu jh nkozG j' ik_dk j? . pZu/ dh T[wo ns/ ekoB eoe/ fJj
bZSD gfjbh tko T[d'_ ;kjwD/ nk_T[zd/ jB id'_ pZuk X[Zg d/ ;zgoe *u
nkT[ _dk j? s/ bZSDk_ ftZu pZu/ d/ o'D ns/ go/kB j'Dk j' ;ed/
jB.uwVh d/ c'fVnk_ B{z mzvh c[jko ns/ mzv/ gkDh Bkb X' e/ nkokw
fdZsk ik ;edk j?.
If a person is unwell, Porphyria can be tested for through urine
and blood tests. The faeces may also be tested to determine
the type. If family members are being tested and the type is
known this can usually be done through a gene test and a referral
to a genetic specialist who will offer more advice on the test.
i/eo e'Jh ftnesh phwko j? sk_ Porphyria B{z fgµkp ns/ y[B dh
ik_u Bkb gofynk ik ;edk j?. fe;w dk fBoXkoB eoB bJh NZNh dh
ik_u th ehsh ik ;edh j?. i/eo gfotkoe w?_pok_ dh ik_u j' ojh j't/
ns/ fe;w dh ikDekoh j' u[Zeh j't/ sk_ fJj ihB dh ik_u eoB bJh
fe;/ ihB wkfjo tZb G/fink ik ;edk j? i' ik_u ;zpzXh p/jso ;bkj
d/t/rk.
Treatment of the Acute Porphyria is based on prevention of acute
attacks. Avoidance of precipitating factors is important. A “safe
drugs list” is available to ensure medications are considered safe
to use with Acute Porphyria. Infections should be treated early
and family members should be tested for the condition. An acute
attack almost always requires hospital admission so treatment
can be given to relieve symptoms. A medication called Haem
Arginate, also known as Normosang may be given every day for
4 days while in hospital.
Hereditary Coprophyria
Porphyria Cutanea Tarda
Protoporphyria
Variegate Porphyria
An X-Linked Dominant Protoporphyria has also been classified
as a Porphyria in 2008. This is caused by a defect in the ALA
Synthase enzyme.
fJZe n?e;-;zpzfXs nXhB;E Protoporphyria B{z th Porphyria ti'_
ÑÇÇä ftZu torhfeqs ehsk frnk j?.fJj ALA Synthase gkue o;
ftZu d'µ ekoB g?dk j[zdk j?
The different Porphyria’s can be inherited by two different
methods: autosomal recessive and autosomal dominance
inheritance (for more information please see our inheritance
leaflet). Additionally Cutanea Tarda Porphyria is sometimes
acquired due to factors that can make the disease become
active. These can be different drugs, chemicals, diet, alcohol,
sun exposure, hepatitis C, HIV and certain other conditions.
ftfGzB Porphyria’s B{z d' tZy'-tZy sohfenk_ Bkb ftok;s *u gqkgs ehsk
ik ;edk j?L nkN';'wb oh;?f;t ns/ nkN';'wb v"whB?_; fJBj?ohN?_; (tX/o/
ikDekoh bJh ;kvk ftok;sh fJµfsjko t/y'.) yk; s"o s/ Cutanea
Tarda Porphyria e[M ekoBk_ eoe/ gqkgs j' ;edk j? i' fe phwkoh B{z
fefonkµhb eo ;edk j?. fJjZ tZy'-tZy dtkJhnk_, o;kfJD, y[oke,
µokp, ;{oi dk ;kjwDk, j?g/NkJhN; ;h, n?ZuHnkJhHthH ns/ e[M j'o yk;
jkbsk_ j' ;edhnk_ jB.
The Porphyria’s are divided into two groups the Acute
Porphyria’s and the Cutaneous Porphyria’s which affect the skin.

Porphyria’s d' ;w{jk_ shpo Porphyria’s ns/ Cutaneous
Porphyria’s ftZu tzv/ j[zd/ jB i' fe uwVh B{z gqGkfts eod/ jB.
The Acute Porphyria’s are inherited through Autosomal Dominant
inheritance. Not everyone who inherits the gene develops
symptoms. Approximately 10% will become ill. This group of
Porphyria’s occur very rarely in children. Almost all cases present
after puberty. Females are more likely to develop the condition
than males.
shpo Porphyria’s B{z nkN';'wb v"whB?_N fJBj?ohN?_; okjh_ ftok;s *u
gqkgs ehsk ik ;edk j?. jo T[j wB[Zy i' ihB B{z ftok;s *u gqkgs
eodk j?, —o{oh Bjh_ fe T[j bZSD th gqrN eo/.brGr ÉÇ% jh
phwko j'Dr/.fJj ;w{j Porphyria’s pZfunk_ ftZu pj[s xZN g?dk j[zd/
jB. brGr ;ko/ jh wkwb/ itkBh T[gozs g?dk j[zd/ jB.n"osk_ ftZu
fJj wodk_ d/ w[ekpb/ tZX wksok ftu g?dk j[zdk j?.
The symptoms of Acute Porphyria’s occur in “acute attacks”. The
main symptom of an acute attack is severe abdominal pain and
can be accompanied by nausea, vomiting, constipation, pains in
the back, arms and legs, muscle weakness especially in the
upper arms and legs, rapid heart beat, increased blood pressure,
confusion, hallucinations and possibly seizures. Also the urine
can be discoloured red due to an excess of porphyrins, after
exposure to light. The attacks can be precipitated by some
prescribed medicines, such as some anti epileptic medications
and some antibiotics, hormone imbalances in women, infection,
stress and poor diet.
shpo Porphyria’s d/ bZSD ¿shpo jwfbnk_¿ ftZu ;kwD/ nkT[_d/
jB.fe;/ shpo jwb/ dk wZ[y bZSDg/N dh rzGho ghVk j' ;edh j?
fi;d/ Bkb Bkb T[bNhnk_,ep—,fgZm dod,bZsk_-pkjk_ *u dod,ihn eZuk
j'Dk,gZfmnk_ dk nftef;s j'Dk s/ ew—'oh,yk; eoe/ pkjk_ bZsd/ T[gob/
fjf;nk_ *u ew—'oh, fdb dh s/— XVeD,y{B d/ d"o/ *u s/—h,T[bMD
tkbh ;fEsh, gkrbgD ns/ ed/ ed/ d"o/ g?D/ nkfd j' ;ed/ jB. porphyrins,
dh pj[sks ekoB o"µBh d/ ;zgoe *u nkT[D s/ fgµkp dk
ozr bkb pdozr j' ;edk j?.fJjBk_ jwfbnk_ B{z e[M ftµ/µ dtkJhnk_
fit/_ fe d"o/-o'Xh dtkJhnk_ ns/ n?_NhpkfJUfNe; Bkb n"osk_ ftZu jkow'B
d/ n;zs[bB, fJBc?eµB, sDkn ns/ ew—'o nkjko nkfd ekoB j'J/
jwfbnk_ B{z o'fenk ik ;edk j?.
The Cutaneous Porphyria’s are caused by porphyrins circulating
in the bloodstream which absorb energy from the sunlight.
Energy is released and causes fragile, painful and/or blistering of
the skin in sun-exposed areas. Cutanea Tarda Porphyria is the
most common Porphyria and usually only affects adults. There
are effective treatments for this condition. Congenital
Erythropoietic Porphyria (CEP) is very rare and usually affects
infants and children. It often requires specialist care at one of the
main centres that deals with Porphyria (In the UK these are
based in London and Cardiff). Both Variegate Porphyria and
Hereditary Coproporphyria affect mainly adults and have
symptoms including blistering and sores on the skin.
Erythropoietic Porphyria is inherited in an autosomal recessive
fashion and usually affects infants and children. The pain starts
within 10-20 minutes of exposure to sunlight. Due to the age of
the child and the fact that these symptoms often occur when the
child is first exposed to sunlight the first signs of this condition
are the child crying and becoming distressed. Soreness of the
skin can be relieved by cold water and cold compressors.
Cutaneous Porphyria’s, porphyrins okjh_ g?dk j[zd/ jB i' fe ;{oi
dh o"µBh s'_ T{oik b?_d/ jB ns/ y[B *u tfjzd/ ofjzd/ jB.T{oik ikoh
ehsh ik_dh j? ns/ ;{oi ;kjwD/ nkT[D s/ EektN ns/ uwVh *u dod
ns/ Skfbnk_ dk ekoB pDdh j?. Cutanea Tarda Porphyria pj[s
nkw j? ns/ Porphyria f;oc pkbrk_ B{z gqGkfts eodk j?.fJ; jkbs
d/ e[M gqGktµkbh fJbki jB. Congenital Erythropoietic Porphyria
(CEP) pj[s d[obZG j? ns/ nkw s"o s/ Btiks ns/ pZfunk_ B{z gqGkfts
eodk j?. fJj ne;o gqwZy e/_dok_ ftZu'_ fe;/ fJZe s/ i' Porphyria