Table 1.
Characteristics and treatments of this study's patients
| Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 5 | Patient 6 | |
|---|---|---|---|---|---|---|
| Birth/gender | 1976/F (sister of patient 2) | 1977/M (brother of patient 1) | 1991/F | 1997/M | 1997/M | 2005/M |
| Ethnic background | Morocco | Morocco | Turkey | Turkey | Caucasian | Morocco |
| Age at the diagnosis of LPI | 3 months old | 10 months old | 19 months old | 2 months old | 11 years old | Few days old |
| Presenting symptoms | Coma, metabolic acidosis | Failure to thrive | Vomiting, failure to thrive | Failure to thrive | Proteinuria | Neonatal hypotonia |
| Remarkable symptoms | Interstitial pulmonary syndrome, severe growth retardation | Local emphysema on pulmonary tomodensitometry | Interstitial pulmonary syndrome on tomodensitometry | |||
| Treatment | Citrulline (dose not known) | Citrulline (3 g/day) | Citrulline (3 g/day), lysine, l-carnitine | Citrulline (dose not known), l-carnitine | Citrulline (3 g/day), arginine (250 mg/kg/day) | Citrulline (1.6 g/day), l-carnitine, lysine |
| Age(yo) at renal impairment diagnosis | 8 | 7 | 3 | 6 | 12 | 2 |
| Renal dysfunction | Tubular | Tubular | Tubular | Tubular | Tubular, glomerular | Tubular |
| Kidney biopsy | Normal | No | No | No | Membranoproliferative glomerulopathy | No |
| Nephrocalcinosis | Yes | No | Yes | No | No | Yes |
| CKD at the end of study (clearance mL/min/1.73 m2) | No | Yes (70) | ESKD | Yes (44) | No | Yes (72) |
| Supplementation | Bicarbonate, phosphate | Bicarbonate | Bicarbonate, phosphate | Bicarbonate, phosphate | Bicarbonate, phosphate | No |
| Age (years) at the end of study | Death at 10 | 36 | 21 | 16 | 16 | 8 |
M male, F female, CKD chronic kidney disease, ESKD end-stage kidney disease