Phenotype #0000166548
| Individual ID |
00218102 |
| Associated disease |
GA1 |
| Inheritance |
Familial, autosomal recessive |
| Age/Onset |
- |
| Diagnosis/Initial |
- |
| Age/Examination |
- |
| Diagnosis/Definite |
- |
| Age/Diagnosis |
00y11m |
| Phenotype/Onset |
- |
| Phenotype details |
Medical history: Preterm birth (28weeks); Normal development until age 10m; At age 10m: febrile diarrhea (HP:0001945, HP:0002014) accompanied by renal failure and multiple seizures (HP:0001250); At age 06y: hospitalization after 10d history of diarrhea without fever and subsequent oliguria (HP:0100520); physical examination upon admission at 1st hospital: macrocephaly (HP:0000256), psychomotor delay (HP:0001263), pallor (HP:0000980), periorbital edema (HP:0100539), abnormal lung auscultation, ascites (HP:0001541) in abdominal ultrasound; Initial suspicion: Hemolytic-uremic syndrome (HP:0005575) due to thrombocytopenia (HP:0001873), anemia (HP:0001903), severe renal failure and elevtaed inflammation markers; transfer to 2nd hospital for peritoneal dialysis; physical examination at 2nd hospital: somnolence, mild respiratory distress (HP:0002098), spasticity (HP:0001257), scissor-like position of lower limbs; excessive blood pressures (HP:0000822), proof of various bacteria in blood cultures, peritoneal fluid and nasal swab; kidney biopsy: negative for immune complexes, significant tubular damage but glomeruli of normal morphology (for more deatils see full text); CT(ages 11m & 06y): brain atrophy |
| Protein |
- |
| Biochem |
During renal failre: GA(urine) &3-OH-GA(urine): highly elevated |
| Enzyme/Activity |
- |
| Owner name |
Isabelle Rinke |
| Database submission license |
No license selected |
| Created by |
Isabelle Rinke |
| Date created |
2019-01-22 17:41:32 +01:00 (CET) |
| Date last edited |
N/A |
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