Skip to main content
Key Specialties
Cardiology Diabetology Endocrinology Gastroenterology Geriatrics and Gerontology Gynecology and Obstetrics Hematology Infectious Disease Internal Medicine Nephrology Neurology Oncology Pediatrics Respiratory Medicine Rheumatology Surgery
Congress Coverage
2024 ACC Congress 2023 ESMO Congress 2023 EASD Congress 2023 ERS Congress 2023 ESC Congress
Clinical Collections
Advances in Alzheimer’s

Keynote webinar | Spotlight on medication adherence

LIVE: Thursday 27th June 2024, 18:00-19:30 (CEST)
Join our expert panel to discover why you need to understand the drivers of non-adherence in your patients, and how you can optimize medication adherence in your clinics to drastically improve patient outcomes.
ADVANCED SEARCH
Log in
Top
CEN Case Reports
Published in: CEN Case Reports 1/2016

01-05-2016 | Case Report

Carbonic anhydrase II deficiency: report of a novel mutation

Authors: Aynaa Alsharidi, Mohammad Al-Hamed, Abdulkareem Alsuwaida

Published in: CEN Case Reports | Issue 1/2016

Login to get access

Abstract

Carbonic anhydrase II (CAII) deficiency is an autosomal recessive disorder characterized by renal tubular acidosis, osteopetrosis, recurrent bone fractures, renal stones, growth failure, and mental retardation. Several cases have been reported in Saudi Arabia with homozygous mutations in CA2 consistent with a high degree of consanguinity. We report a case of carbonic anhydrase II deficiency with short stature, mixed renal tubular acidosis, recurrent bone fractures due to trivial trauma, recurrent renal stones and cerebral calcification. This patient was compound heterozygous for a novel CA2 mutation and a previously reported mutation in Arabs.
Literature
1.
Sly WS, Hewett-Emmett D, Whyte MP, Yu Y-SL, Tashian RE. Carbonic anhydrase II deficiency identified as the Primary defect in the autosomal recessive syndrome of osteoporosis with renal tubular acidosis and cerebral calcification. Proc Natl Acad Sci USA. 1983;80:2752–6.CrossRefPubMedPubMedCentral
2.
Hu PY, Roth DE, Skaggs LA, et al. A splice junction mutation in intron 2 of the carbonic anhydrase II gene of osteopetrosis patients from Arabic countries. Hum Mutat. 1992;1(4):288–92.CrossRefPubMed
3.
Venta PJ, Shows TB, Curtis PJ, Taishan RE. Polymorphic gene for human carbonic anhydrase II: a molecular disease marker located on chromosome 8. Proc Natl Acad Sci USA. 1983;80:4437–40.CrossRefPubMedPubMedCentral
4.
Sly WS, Lang R, Avioli L, Haddad J, Lubowitz H, McAlister W. Recessive osteopetrosis: new clinical phenotype. Am J Hum Genet. 1972;24(Suppl):34a.
5.
Guibaud P, Larbre F, Freycon MT, Genoud J. Osteopetrose et acidoserenaletubulaire: deuxcas de cette association dansunefratrie. Archives Francaises de Pediatric. 1972;29:269–86.
6.
Vainsel M, Fondu P, Cadranel S, Rocmans C, Gepts W. Osteopetrosis associated with proximal and distal tubular acidosis. Acta Paediatr Scand. 1972;61:429–34.CrossRefPubMed
7.
Ohlsson A, Strak G, Sakati N. Marble brain disease: recessive osteopetrosis, renal tubular acidosis and cerebral calcification in three Saudi Arabian families. Dev Med Child Neurol. 1980;22:72–84.CrossRefPubMed
8.
Aldahmesh MA, Abu-Safieh L, Khan AO, Al-Hassnan ZN, Shaheen R, Rajab M, Monies D, Meyer BF, AlKuraya FS. Allelic heterogeneity in consanguineous population: Saudi experience with alstrom syndrome as an illustrative example. Am J Med Genet A. 2009;149(A(4)):662–5.CrossRef
9.
Zakzouk SM, Sobki SH, Mansour F, Al-Anazi FH. Hearing impairment in association with distal renal tubular acidosis among Saudi children. J Laryngol Otol. 1995;109:930–4.CrossRefPubMed
10.
Al-Ibrahim A, Al-Harbi M, Al-Musallam S. Paralysis episodes in carbonic anhydrase II deficiency. Saudi J Kidney Dis Transpl. 2003;14:70–4.PubMed
11.
Awad M, Al-Ashwal A, Sakati N, Al-Abbad A, Bin-Abbas B. Long-term follow up of carbonic anhydrase II deficiency syndrome. Saudi Med J. 2002;23(1):25–9.PubMed
12.
McMahon C, Will A, Hu P, Shah GN, Sly WS, Smith OP. Bone marrow transplantation corrects the osteopetrosis in the carbonic anhydrase II deficiency syndrome. Blood. 2001;97:1947–50.CrossRefPubMed
Metadata
Title
Carbonic anhydrase II deficiency: report of a novel mutation
Authors
Aynaa Alsharidi
Mohammad Al-Hamed
Abdulkareem Alsuwaida
Publication date
01-05-2016
Publisher
Springer Japan
Published in
CEN Case Reports / Issue 1/2016
Electronic ISSN: 2192-4449
DOI
https://doi.org/10.1007/s13730-015-0205-y

Other articles of this Issue 1/2016

CEN Case Reports 1/2016 Go to the issue

Case Report

Rhabdomyolysis as the first manifestation of human immunodeficiency virus infection

Case Report

Treatment of a recurrent renal artery stenosis and stent fracture using a drug eluting stent in a pediatric patient

Case Report

A case of minimal change nephrotic syndrome with hypothyroidism deterioration

Case Report

Karyomegalic interstitial nephritis

Case Report

Familial Mediterranean Fever developing in a Japanese kidney transplant recipient

Case Report

Cystinuria in a patient with 19q12q13.1 deletion
Live Webinar | 27-06-2024 | 18:00 (CEST)

Keynote webinar | Spotlight on medication adherence

Reserve your place

Live: Thursday 27th June 2024, 18:00-19:30 (CEST)

WHO estimates that half of all patients worldwide are non-adherent to their prescribed medication. The consequences of poor adherence can be catastrophic, on both the individual and population level.

Join our expert panel to discover why you need to understand the drivers of non-adherence in your patients, and how you can optimize medication adherence in your clinics to drastically improve patient outcomes.

Prof. Kevin Dolgin
Prof. Florian Limbourg
Prof. Anoop Chauhan
Developed by: Springer Medicine
Obesity Clinical Trial Summary

At a glance: The STEP trials

Read more

A round-up of the STEP phase 3 clinical trials evaluating semaglutide for weight loss in people with overweight or obesity.

Developed by: Springer Medicine
Image Credits