Clinical and molecular findings in a family with the carbonic anhydrase II deficiency syndrome

Lotan, Danny; Eisenkraft, Arik; Jacobsson, Jeffrey M.; Bar‐Yosef, Omer; Kleta, Robert; Gal, Nurit; Raviv-Zilka, Lisa; Gore, Hagar; Anikster, Yair

doi:10.1007/s00467-005-2125-0

Cited by 12 publications

(6 citation statements)

References 13 publications

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“…Other rare medical manifestations reported with this syndrome include restrictive lung disease [16] and primary pulmonary hypertension [17]. However, our reporting of pectus carinatum in three patients is a finding not previously reported.…”

Section: Discussioncontrasting

confidence: 48%

“…The CA II deficiency syndrome is an autosomal recessive disorder leading to osteopetrosis, RTA and cerebral calcification. It is an extremely rare syndrome with a fewer than 200 cases reported world wide so far [17]. The clinical manifestations of this syndrome comprise increased bone density, growth failure, intracerebral calcification, facial dysmorphism, mental retardation and conductive hearing impairment [18].…”

Section: Discussionmentioning

confidence: 99%

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Carbonic anhydrase II deficiency syndrome: A report of 18 new Saudi Arabian cases

Suliman

Khedr²,

Ruthae

2015

J Pediatr Neurol

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To describe the clinical, radiological and biochemical features of 18 new Saudi Arabian children with the carbonic anhydrase II deficiency syndrome, who have been in follow up at Al-Rass General Hospital in the period from September 2004 to September 2008. The medical records of these children were reviewed. The diagnosis was based on the typical clinical, radiological and biochemical evidence of the disease. These patients had characteristic clinical features, which include typical facial appearance and growth and psychomotor retardation. All patients had renal tubular acidosis (the majority have distal renal tubular acidosis) and metaphyseal osteopetrosis. Intracerebral calcifications were reported in 9 out of the 15 children in whom cranial tomography scan of the brain was performed. Half had nystagmus, about half had squint, another half had visual impairment and two patients had optic atrophy and total blindness. Two patients had hepatosplenomegaly with anemia and thrombocytopenia due to bone marrow involvement. Four patients had spastic quadriplegia and three patients had pectus carinatum. The median age of diagnosis was significantly lower than that reported, and two of the patients reported in this study represent the first two cases to be diagnosed at birth. Their intrauterine growth was normal, however radiological evidence of osteopetrosis were reported at birth, but renal acidosis developed at around 2 weeks of age. The syndrome of carbonic anhydrase II deficiency is prevalent in this region of Saudi Arabia. The disease has serious complications and early diagnosis is important. This series included the first two cases that were diagnosed at birth and also showed that central nervous system complications are common presentation of this syndrome.

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Section: Discussioncontrasting

confidence: 48%

Section: Discussionmentioning

confidence: 99%

Carbonic anhydrase II deficiency syndrome: A report of 18 new Saudi Arabian cases

Suliman

Khedr²,

Ruthae

2015

J Pediatr Neurol

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“…Some data from both groups had been included in previous publications [11,12,13]. We now added 8 heretofore non-published cases.…”

Section: Resultsmentioning

confidence: 99%

Familial Autosomal Recessive Renal Tubular Acidosis: Importance of Early Diagnosis

Vivante¹,

Lotan

Pode‐Shakked

et al. 2011

Nephron Physiol

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Background and Aims: Untreated renal tubular acidosis (RTA) can result in severe complications. We reviewed the clinical features of patients with mutations in two genes causing RTA and evaluated their developmental expression assuming that timing, symptom severity and complications may be related to its occurrence. Methods: Clinical data from 16 patients with RTA due to mutations in either ATP6V1B1 or CAII were retrospectively reviewed. Both genes’ localization and expression pattern in the developing human kidney were analyzed by real-time polymerase chain reaction and immunostaining. Results: RTA-presenting symptoms were non-specific. Patients with mutations in ATP6V1B1 had earlier presentation (4.9 vs. 11 months, p < 0.041) and longer time to diagnosis than patients with CAII mutations (5.8 vs. 57 months, p < 0.01). Patients with ATP6V1B1 mutations were more likely to develop chronic kidney disease than those with CAII mutations (follow-up GFR values: 89 vs. 110 ml/min/1.73 m², respectively, p < 0.017), probably secondary to nephrocalcinosis. Both ATP6V1B1 and CAII were expressed early during human nephrogenesis, with relatively higher transcript levels of ATP6V1B1. Conclusions: There is considerable delay in establishing a diagnosis of both types of RTA, supporting the need for earlier biochemical investigation. RTA due to ATP6V1B1 mutations is associated with mild progressive loss of kidney function.

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“…Usually, there are no haematological manifestations of the disease [98,99]. Recently, a patient with this form of osteopetrosis was diagnosed with primary pulmonary hypertension [99]. Most of the patients have a combination of proximal and distal renal tubular acidosis.…”

Section: Impaired Functioning Of the Osteoclastmentioning

confidence: 98%

“…Clinical manifestations include short stature, cerebral calcifications, mental retardation, dental malocclusion and fractures. Usually, there are no haematological manifestations of the disease [98,99]. Recently, a patient with this form of osteopetrosis was diagnosed with primary pulmonary hypertension [99].…”

Section: Impaired Functioning Of the Osteoclastmentioning

confidence: 99%

Osteopetrosis: from Animal Models to Human Conditions

Perdu

Hul

Wesenbeeck

2008

Clinic Rev Bone Miner Metab

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The term ''osteopetrosis'' is applied to a group of disorders characterized by an increased bone density, due to an inadequate bone resorption. A considerable part of our current knowledge on osteoclast biology is based on the study of osteopetrotic animal models. The search for mutations in these animals has unveiled many molecular mechanisms underlying osteoclast differentiation and functioning. It also supplied new candidate genes for the identification of genes involved in the human variants of this disease. All osteopetrotic genes identified so far in humans have their animal counterpart. The reverse is not true. This can partially be explained by the fact that still more than 30% of all patients suffer from osteopetrosis with an unkown molecular defect. Therefore, the studies of the osteopetrotic animal models and the correlating human osteopetrotic forms were and are still very important for our knowledge of the aetiology, prognosis and treatment of this disease. This review focuses on osteopetrotic animal models as well as human osteopetrotic conditions and their impact on osteoclast biology, pathogenesis and treatment.

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Clinical and molecular findings in a family with the carbonic anhydrase II deficiency syndrome

Cited by 12 publications

References 13 publications

Carbonic anhydrase II deficiency syndrome: A report of 18 new Saudi Arabian cases

Carbonic anhydrase II deficiency syndrome: A report of 18 new Saudi Arabian cases

Familial Autosomal Recessive Renal Tubular Acidosis: Importance of Early Diagnosis

Osteopetrosis: from Animal Models to Human Conditions

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