Molecular and clinical findings in four patients with congenital sodium diarrhoea with GUCY2C mutations
| Parameter | Patient A1109 | Patient B1933 | Patient A1111 | Patient B2425 |
|---|---|---|---|---|
| GUCY2C mutation (exon) | c.1519A>G (13) | c.2324T>C (21) | c.2376G>C (21) | c.2548A>G (22) |
| Protein alteration | p.K507E | p.L775P | p.R792S | p.N850D |
| Protein domain | Kinase homology | Linker region | Linker region | Catalytic |
| Consanguinity | No | No | No | No |
| Ethnicity | French/Algerian | Dutch | German | German/Polish |
| Current age (month) | 86 | 79 | 55 | 34 |
| Sex | f | m | f | f |
| Gestational age at birth (weeks) | 40 | 34 | 32 | 37 |
| Birth weight (g) | 3280 | 3310 | 2980 | 2620 |
| Present weight (kg/centile) | 21/10–25th | 19.5/10th | 19 /90–97th | 11.8/3–10th |
| Present length (cm, centile) | 120.5/25th | 116.5/25th | 109/90th | 89/10th |
| Polyhydramnios | No | Yes | Yes | Yes |
| Plasma [Na+] (132–155 mmol/L) | 136 | 130 | 130 | 137 |
| Plasma pH | 7.26 | 7.30 | 7.24 | 7.18 |
| Plasma [HCO3−] (mmol/L) | 12.9 | 17. | n.i. | 19.6 |
| Faecal [Na+] (20–50 mmol/L) | 110 | 145 (ileal) | 150 (ileal) | 145 (ileal) |
| Faecal [Cl-] (5–25 mmol/L) | 96 | 116 (ileal) | 121 (ileal) | 109 (ileal) |
| Faecal pH (6–7) | 8 | 8 | 9 | 8.5 |
| Faecal osmolality (320–370 mosmol/kg stool) | No information | 283 | No information | No information |
| Urinary [Na+] (2–28 mmol/L) | No information | No information | 12 | <20 |
| Histology | Ischaemic ulcers | UC gastroduodenitis | Non-specific focal inflammation | Normal |
| Parenteral fluids till (month) | 14 | Present | Present | 5 |
| Current treatment | Oral | Total parenteral nutrition | Total parenteral nutrition | Oral |
| Current Na+ supplementation (mmol/kg/d) | No information | 21 | 33 | 26 |
| Complications | Sepsis | Recurrent pseudo-obstructions | Adhesion ileus, sepsis | Sepsis |
| Outcome | Normal | Partial small bowel resection, colitis, gastroduodenitis normal growth | Normal | Normal |