Osteopetrosi ed acidosi renale

un nuovo caso di questa rara sindrome.

Translated title of the contribution: Osteopetrosis and renal acidosis: a new case of this rare syndrome

G. Ruffa, C. Milanaccio, P. Sbolgi, G. L. Levato, M. Bartocci, V. Galasso, P. L. Bruschettini

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

The association between osteopetrosis and renal acidosis is not accidental, but represents a well-known syndrome with autosomal recessive transmission, due to carbonic anhydrase II(CA II) deficiency. The disease is extremely rare (only few reports in the literature). The diagnosis is confirmed by CA II erythrocyte assay. However, this finding is not essential when the clinical picture is complete, as in the case reported in this paper, which presents a patient with osteopetrosis, proximal tubular acidosis, intracranial calcifications, psychomotor retardation and short stature. Prenatal diagnosis will rely on the genetic study of DNA by molecular probes, since it is already well-known that the coding gene for CA II is on the long arm of chromosome 8 (8q22).

Original languageItalian
Pages (from-to)135-140
Number of pages6
JournalMinerva Pediatrica
Volume47
Issue number4
Publication statusPublished - Apr 1995

Fingerprint

Carbonic Anhydrase II
Osteopetrosis
Acidosis
Kidney
Molecular Probes
Chromosomes, Human, Pair 8
DNA Probes
Prenatal Diagnosis
Erythrocytes
Genes
Osteopetrosis with renal tubular acidosis
Wells syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Ruffa, G., Milanaccio, C., Sbolgi, P., Levato, G. L., Bartocci, M., Galasso, V., & Bruschettini, P. L. (1995). Osteopetrosi ed acidosi renale: un nuovo caso di questa rara sindrome. Minerva Pediatrica, 47(4), 135-140.

Osteopetrosi ed acidosi renale : un nuovo caso di questa rara sindrome. / Ruffa, G.; Milanaccio, C.; Sbolgi, P.; Levato, G. L.; Bartocci, M.; Galasso, V.; Bruschettini, P. L.

In: Minerva Pediatrica, Vol. 47, No. 4, 04.1995, p. 135-140.

Research output: Contribution to journalArticle

Ruffa, G, Milanaccio, C, Sbolgi, P, Levato, GL, Bartocci, M, Galasso, V & Bruschettini, PL 1995, 'Osteopetrosi ed acidosi renale: un nuovo caso di questa rara sindrome.', Minerva Pediatrica, vol. 47, no. 4, pp. 135-140.
Ruffa G, Milanaccio C, Sbolgi P, Levato GL, Bartocci M, Galasso V et al. Osteopetrosi ed acidosi renale: un nuovo caso di questa rara sindrome. Minerva Pediatrica. 1995 Apr;47(4):135-140.
Ruffa, G. ; Milanaccio, C. ; Sbolgi, P. ; Levato, G. L. ; Bartocci, M. ; Galasso, V. ; Bruschettini, P. L. / Osteopetrosi ed acidosi renale : un nuovo caso di questa rara sindrome. In: Minerva Pediatrica. 1995 ; Vol. 47, No. 4. pp. 135-140.
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