Clinical and Laboratory Features of Acute Porphyria: A Study of 36 Subjects in a Chinese Tertiary Referral Center

Table 3

Summary of genetic analysis of mutations in the PBGD gene in 10 patients.

Patient		Clinical features	Total length of hospital stay (days)	Serum Na (mEq/L)	Plasma osmotic pressure	Urine osmotic pressure	Mutation in PBGD gene
1	F21	Cyclical attacks, abdominal pain, constipation, confusion, convulsion, tachycardia	13	107	245	447	Ala330Pro [11]
2	F31	Cyclical attacks, abdominal pain, constipation	5	130	280	270	Ala330Pro [11]
3	F24	Cyclical attacks, abdominal pain	3	108	291	585	NO
4	M45	Cyclical attacks, abdominal pain, urine retention	10	109	312	355	Arg173Trp [12]
5	F26	Cyclical attacks, abdominal pain, constipation	9	118	280	732	Arg173Trp
6	F28	Cyclical attacks, abdominal pain, confusion, convulsion	7	112	281	476	Arg173Trp
7	F22	Cyclical attacks, abdominal pain, constipation, respiratory paralysis	11	130			Trp283Term
8	F23	Cyclical attacks, abdominal pain, constipation, confusion, convulsion, tachycardia	10	113	244	730	Trp283Term
9	F34	Cyclical attacks, abdominal pain, sun sensitivity, confusion, convulsion, tachycardia	7	112	241	325	Arg173Trp
10	F33	Cyclical attacks, abdominal pain, constipation, hypertension and renal dysfunction	8	128	314	309	Cys625Term

Patients 1 and 2 were cousins; patients 7 and 8 were sisters.