Lowe's Syndrome Aetiology:- This syndrome is a "genetic" condition.
- It is caused by a mutation in the OCRL1 gene.
- This gene codes for the essential enzyme PIP2-5-phosphatase is not produced in Lowe's Syndrome.
Lowe's Syndrome Diagnosis:
- Diagnosis is still largely clinical.
- Based on the presence of cataracts at birth in both eyes, plus a kidney disorder & a positive test for the enzyme deficiency.
Lowe's Syndrome - Renal Complications:
- Aminoaciduria
- Fanconi-type renal tubular dysfunction
- Phosphaturia
- Proteinuria
- Progressive renal failure
- Proximal renal tubular acidosis
Lowe's Syndrome - Non Renal Complications:
- Metabolic - CPK elevation
- Muscle - Areflexia, Hypotonia
- Neurological - Seizures
- Ophthalmic - Congenital cataracts, Glaucoma
- Psychiatric - Intellectual impairment, Mental retardation
- Skeletal - Vitamin D Resistant Rickets
Picture: Young boy with Lowe's syndrome.
Image thanks to Robert Thomson on flickr.com (creative commons).
Tags: Areflexia - Cataract - Hypotonia - Lowe's Syndrome - Mental Retardation - Oculocerebrorenal Syndrome - PIP2-5-phosphatase - Seizures
Posted by Medicalchemy
Medicalchemy Group: History of Medicine - Images - Mnemonics - Syndromes - Acute Medicine - Anaesthesiology - Anatomy - Anthropology - Biochemistry - Cardiology - Dentistry - Dermatology - Drug ADR - Drugs - Embryology - Emergency Medicine - Endocrinology - Epidemiology - Family Medicine - Forensic Medicine - Gastroenterology - Genes - Genetics - Geriatrics - Gynecology - Haematology - Health Informatics - Hepatology - Immunology - Infection - Intensive Care - Medical Dictionary - Medical Education - Medical Statistics - Metabolic Medicine - Microbiology - Nephrology - Neuroanatomy - Neuroscience - Nuclear Medicine - Nutrition - Obstetrics - Occupational Health - Oncology - Ophthalmology - Orthopaedics - Otolaryngology - Paediatrics - Palliative Care - Parasitology - Pathology - Pharmacology - Physiology - Proteomics - Psychiatry - Public Health - Radiology - Respiratory - Rehabilitation - Rheumatology - Sports Medicine - Surgery - Toxicology - Tropical Medicine - Urology - Vascular - Virology.
Medicalchemy Group: History of Medicine - Images - Mnemonics - Syndromes - Acute Medicine - Anaesthesiology - Anatomy - Anthropology - Biochemistry - Cardiology - Dentistry - Dermatology - Drug ADR - Drugs - Embryology - Emergency Medicine - Endocrinology - Epidemiology - Family Medicine - Forensic Medicine - Gastroenterology - Genes - Genetics - Geriatrics - Gynecology - Haematology - Health Informatics - Hepatology - Immunology - Infection - Intensive Care - Medical Dictionary - Medical Education - Medical Statistics - Metabolic Medicine - Microbiology - Nephrology - Neuroanatomy - Neuroscience - Nuclear Medicine - Nutrition - Obstetrics - Occupational Health - Oncology - Ophthalmology - Orthopaedics - Otolaryngology - Paediatrics - Palliative Care - Parasitology - Pathology - Pharmacology - Physiology - Proteomics - Psychiatry - Public Health - Radiology - Respiratory - Rehabilitation - Rheumatology - Sports Medicine - Surgery - Toxicology - Tropical Medicine - Urology - Vascular - Virology.
