Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthood

Table 1 Clinical characteristics of patients with LPI. (Asterisks refer to the same familial pedigree)

Patient	1 *	2 *	3 **	4 **	5 ***	6	7 ***	8 ****	9	10	11	12	13 ****	14 *	15 *	16 ***	n/N or mean (SD)
Year of birth	1976	1977	1977	1980	1991	1993	1994	1994	1996	1997	1997	1999	2001	2003	2005	2010
Sex	f	m	m	m	m	m	m	f	m	m	m	f	f	m	m	m	m/f : 3
Consanguinity	+	+	-	-	+	-	+	+	+	+	-	+	+	+	+	+	12/16
Age at diagnosis (y.)	1.5	0.8	16.2	13	2.2	1.3	0	0.7	2.2	1.3	12.6	3.4	10.3	0.1	0.005	0.008	4.1 (4.5)
Death	+	-	-	-	-	-	+	+	+	-	-	-	-	+	+	-	6/16
Age at last visit or death (y.)	10.1	37.8	37.4	34.6	23	20.2	5.1	1.8	4.5	18.1	18.1	15.8	13.6	0.5	2.1	5.1	15.5 (10.1)
Failure to thrive	+	+	+	+	+	+	+	+	+	+	+	+	+	+	+	+	16/16
Hepato splenomegaly	+	+	+	+	+	+	+	+	+	+	+	+	+	+	+	+	16/16
Alveolar proteinosis	+	+	-	-	+	+	+	+	+	-	-	-	-	+	+	+	10/16
Renal tubulopathy	+	+	+	+	+	+	NA	NA	NA	+	+	+	+	NA	NA	+	11/11
Proteinuria > 0,3g/l	-	+	+	-	-	-	NA	-	NA	+	+	-	-	NA	NA	-	4/16
eGFR < 90ml/min	-	+	+	+	-	+	-	-	-	+	-	-	+	-	-	-	6/16
Histological associated disease pattern	hepatic amyloidosis	-	-	renal amyloidosis	-	-	-	-	-	-	lupus membranous nephritis	-	Intersitial nephritis - renal fibrosis	-	-	-
Cognitive impairment	NA	-	+	+	+	-	NA	+	+	+	-	-	-	+	+	-	8/14
Hemophagocytosis	NA	-	+	+	-	+	+	-	+	-	-	-	-	-	-	-	5/15
Dysimmunity	-	-	-	-	+	-	+	-	-	-	+	-	-	-	-	-	3/16
Osteopenia	+	+	-	+	+	+	NA	+	+	+	+	+	+	-	+	-	12/15
Pancreatitis	-	-	-	-	+	-	-	-	-	-	-	+	-	-	-	-	2/16
Cardiac event	-	+	-	-	+	-	-	-	-	-	-	-	-	-	-	-	2/16

*,**,*** and **** refer to 4 different families. Cases without asterisk are from different families

ISSN: 1750-1172