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

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

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