Lowe syndrome
Conditions
Interventions
Case series:None
Sponsors
PLA General Hospital
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1. Congenital cataract; 2. Severe intellectual disability, postnatal developmental delay, delayed psychomotor development, hypotonia of limbs, weakened knee reflex, corpus callosum hypoplasia, brain hypoplasia, and delayed white matter myelination; 3. Slow and progressive renal failure and renal tubular dysfunction, small molecule proteinuria, hypercalciuria, diabetes and cryptorchidism; 4. Other features may include painless joint swelling, subcutaneous nodules and arthropathy, rickets and renal nodules, metabolic acidosis.
Exclusion criteria
Exclusion criteria: Cataracts, craniocerebral injury, abnormal development of the central nervous system, renal structure and function damage, and internal environment disorders caused by non-genetic factors in children.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Disease genes; | — |
Countries
China
Contacts
Public ContactXiao Donghua
Chinese People's Liberation Army General Hospital
Outcome results
None listed