TABLE 1.
Summary of the patient and five previously reported HUPRA Syndrome cases caused by SARS2 mutations.
| Patient | 1 | 2 | 3 | 4 | 5 | 6 |
|---|---|---|---|---|---|---|
| SARS2 mutations (NM_017827.3) | c.1169A>G (p. Asp390Gly) | c.1205G>A (p. Arg402His) |
c.667G>A (p. Val223Met) c.1205G>A (p. Arg402His) |
|||
| Reference | Belostotsky et al.,2011 | Rivera et al., 2013 | In this paper | |||
| Gender | M | F | F | F | M | F |
| Initial visit | 4 months | 7 months | 4 months | 5 months | 2 months | 4 years and 4 months |
| Ethnicity | Palestinians | Palestinians | Palestinians | Spanish | Spanish | Chinese |
| Premature | 34 weeks | 27 weeks | 27 weeks | 37 weeks | 36 weeks | 36 weeks |
| Pulmonary hypertension | + | + | + | ND① | + | − |
| Progressive renal failure | + | + | + | + | + | + |
| Metabolic alkalosis | + | + | + | + | + | − |
| Retardation | + | + | + | + | + | + |
| Anemia(g/dl) | 9(N > 10.5) | 4.8(N > 10.5) | ND | 8.4(N > 12) | 7.6(N > 12) | 8.7(N > 11) |
| Diuresis | + | ND | + | ND | ND | + |
| Hypertension | + | + | ND | + | ND | − |
| Hypotonia | + | ND | ND | + | ND | − |
| Hyperuricemia (mg/dl) | 13.8 (2.4–6.4) | 26.8 (2.4–6.4) | 14.1 (2.4–6.4) | 11 (2.2–7) | 9.4 (2.2–7) | 11 (2.4–6.6) |
| Low FeUA | 5.7% (N > 7%) | <5% (N > 7%) | +(DU) | ND | 2–3%(N > 7%) | ND |
| Hyponatremia (mEq/L) | 116 (133–146) | 124 (133–146) | 122 (133–146) | ND | +(DU) | 146.8 (132–145) |
| Hypomagnesemia (mg/dl) | 0.9 (1.58–2.4) | 1.2 (1.58–2.4) | 0.97 (1.58–2.4) | ND | 1.7 (1.5–2.3) | 1.29 (1.29–2.70) |
| High FeMg | 12.80% (N < 5%) | +(DU) | +(DU) | ND | ND | ND |
| Elevated BUN (disproportionate to Scr) | + | + | + | + | + | + |
| Urea(mg/dl) | 44 (5–18) | 87 (5–18) | +(DU) | 159 (20–48) | +(DU) | 129 (15–40) |
| Serum creatinine (mg/dl) | 0.99 (0.2–0.4) | 1.14 (0.2–0.4) | +(DU) | 1.01 (0.35–0.5) | 0.96 (0.35–0.5) | 1.24 (0.17–1.02) |
| Elevated lactic acid(mmol/L) | 10.2 (0.5–2.4) | 5.54 (0.5–2.4) | 8 (0.5–2.4) | − | − | 4.57 (0.7–2.1) |
| Creatinine clearance (ml/min 1.73 m−2) | 29 (39–114) | 22 (39–114) | 31 (39–114) | 42 (>60) | ND | 25 (>90) |
| amino acids and acylcarnitine in plasma(μM) |
Serum alanine 1029 (N < 547) |
ND | ND | − | − | − |
| Proteinuria(mg/mg) | 1.26 (N < 0.5) | ND | ND | − | ND | − |
| Size of kidney | normal | ND | normal | normal | normal | Diminution |
| Survival time | 14 months | 10 months | 1+ year | 26 months | 21 months | 5 years and 10 months |
①, Pulmonary hypertension is unknown, but postmortem reports suggest hypertrophic obstructive cardiomyopathy. P1, P2 are from distant cousins of the same family; the parents of P2 are cousins; P4 and P5 are siblings of the same parents. FeMg, fractional excretion of magnesium; FeUA, fractional excretion of uric acid; ND, not determined; +(DU), it exists but the details are unknown.