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Osteopetrosis with renal tubular acidosis
Disease definition
Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis (see this term), renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications.
ORPHA:2785
Classification level: Disorder- Synonym(s):
- Carbonic anhydrase 2 deficiency
- Guibaud-Vainsel syndrome
- Marble brain disease
- Mixed RTA
- Mixed renal tubular acidosis
- Renal tubular acidosis type 3
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Infancy, Neonatal
- ICD-10: Q78.2
- ICD-11: LD24.10
- OMIM: 259730 267200
- UMLS: C1849435
- MeSH: C536058
- GARD: 4154
- MedDRA: -
Summary
Epidemiology
Prevalence of this disorder is not known. Fewer than 100 cases have been reported to date. Many reports involved families of North African and Middle Eastern descent, but cases have been documented worldwide.
Clinical description
Patients present a triad of mild osteopetrosis, mixed proximal and distal RTA, and intracerebral calcifications. Other clinical manifestations include fractures, growth failure and short stature, developmental delay, intellectual deficit, dental malocclusions/malalignment, cranial nerve compression and hearing impairment.
Etiology
Osteopetrosis with renal tubular acidosis is caused by mutations in the CA2 gene (8q22) encoding carbonic anhydrase II.
Diagnostic methods
Diagnosis is based on radiological findings in the presence of acidosis and intracerebral calcifications, and can be confirmed by molecular genetic testing.
Antenatal diagnosis
Antenatal diagnosis is possible if the mutation(s) causing the condition in the family are known.
Genetic counseling
Transmission is autosomal recessive.
Management and treatment
Treatment is symptomatic. Referral to a renal physician to manage the acidosis is recommended.
Prognosis
Severity is variable but the disorder has a milder course than in patients with classic osteopetrosis.
A summary on this disease is available in Deutsch (2012) Español (2012) Français (2012) Italiano (2012) Nederlands (2012) Russian (2012, pdf)
Detailed information
General public
- Article for general public
- English (2013) - Socialstyrelsen
- Svenska (2019) - Socialstyrelsen
Guidelines
- Anesthesia guidelines
- Czech (2016) - Orphananesthesia
- English (2016) - Orphananesthesia
Disease review articles
- Review article
- English (2009) - Orphanet J Rare Dis
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