BS 1 | BS 2 | BS 3 | BS 4a | BS 4b | Type 5* | GS | |
Affected gene | SLC12A1 | KCNJ1 | CLCNKB | BSND | CLCNKA; CLCNKB | MAGED2 | SLC12A3 |
Typical age of presentation | Antenatal | Antenatal | 0 to 5 years | Antenatal | Antenatal | Antenatal | >6 years |
Polyhydramnios | Severe | Severe | Absent to mild | Severe | Severe | Very severe | Absent |
Prematurity | Common | Common | Rare | Common | Common | Always | No |
Neonatal hypovolemia¶ | Common | Common | Rare | Common | Common | Common | Absent |
Hypokalemia | Always | Transient neonatal hyperkalemia followed by hypokalemia | Always | Always | Always | Always | Always |
Calcium excretion | High | High | Variable but usually normal | Variable | Variable | Variable | Low |
Nephrocalcinosis | Very common | Very common | Rare and, if present, mild | Rare and, if present, mild | Rare and, if present, mild | Rare | Absent |
Magnesium excretion | Normal | Normal | Normal to high | Normal to high | Normal to high | Unknown | High |
Poor weight gain and growth failure | Common | Common | Common | Common | Common | No | Can be seen in prepubertal individuals. Short stature may be seen in affected adolescents and adults. |
Other findings | Sensorineural hearing loss | Sensorineural hearing loss | Large for gestational age; transient disease | Chondrocalcinosis |
آیا می خواهید مدیلیب را به صفحه اصلی خود اضافه کنید؟