Search

Byline: R. Lubrano (1), P. Scoppi (1), P. Barsotti (2), E. Travasso (1), S. Scateni (1), S. Cristaldi (1), M. A. Castello (1) Keywords: Keywords Methylmalonic acidemia; Kidney transplant Abstract: Methylmalonic acidemia (MMA) is an inborn error of organic acid metabolism that occurs in infancy with hypotonia, vomiting, dehydration, lethargy and failure to thrive and is biochemically characterized by metabolic ketoacidosis, hyperammonemia and sometimes hyperglycinemia. It results from deficiency of methylmalonyl-CoA mutase activity due to a defect in the mutase apoenzyme or to deficient function of one of the enzymes required for metabolism of its cofactor vitamin B.sub.12. Tubulointerstitial nephritis with progressive impairment of renal function is one of the most frequent long-term complications. We describe a case of a 17-year-old girl with methylmalonic acidemia unresponsive to vitamin B.sub.12 therapy. The clinical symptoms appeared at 4 months of life. She progressed into end stage renal disease and in January 1996 she started on hemodialytic treatment. In November 1996 we performed a kidney transplant. At present, urinary excretion of methylmalonic acid is normal and the renal function of the transplanted kidney is normal without any rejection episodes. We think that a kidney transplant could be a good therapeutic choice for the metabolic alterations in MMA with end stage renal disease. Indeed it would seem that the small methylmalonyl-CoA mutase activity present in the transplanted kidney could be sufficient to ensure normal metabolism of organic acids. Otherwise, the therapeutic goal can be achieved with a protein-restricted diet. Author Affiliation: (1) Istituto di Clinica Pediatrica, Policlinico Umberto I, Universita degli Studi di Roma "La Sapienza", Viale Regina Elena 324, 00161 Rome, Italy. riccardo.lubrano@uniroma1.it, IT (2) Dipartimento di Medicina Sperimentale e Patologia, Universita degli Studi di Roma "La Sapienza", Rome, Italy, IT Article note: Received: 7 February 2001 / Revised: 27 June 2001 / Accepted: 28 June 2001

Byline: A. De Biase (1), L. Ottolenghi (2), A. Polimeni (2), A. Benvenuto (1), R. Lubrano (3), F. M. Magliocca (4) Keywords: Keywords Cyclosporin A; Calcium channel blocker; Mandibular cysts; Renal transplantation; Gingival overgrowth Abstract: Cyclosporin A (CsA) is used in the treatment of patients undergoing renal transplantation. There are a number of side effects associated with its use. In particular, the gingival overgrowth represents the most important in the oral cavity. The authors present a case of bilateral mandibular cysts in an 8-year-old boy, treated with CsA after renal transplantation. The genesis of the mandibular cysts might be associated with the combined use of CsA and a calcium channel blocker post-transplantation. CsA-induced gingival overgrowth might contribute to cysts by two mechanisms: interference with control mechanisms that regulate the reabsorption of gingival stromal tissue, allowing progressive dental eruption, and an increase in the gingival connective tissue components. Gingival hypertrophy might mechanically obstruct the eruption of the developing tooth. Author Affiliation: (1) Department of Odontostomatologic Diseases, Dental Institute, University of Rome "La Sapienza", 00161 Rome, Italy. Albertodebiase@tiscalinet.it, IT (2) Department of Pediatric Dentistry, University of Rome "La Sapienza", Rome, Italy, IT (3) Pediatric Institute, University of Rome "La Sapienza", Rome, Italy, IT (4) Department of Experimental Medicine and Pathology, University of Rome "La Sapienza", Rome, Italy, IT Article note: Received: 28 December 1999 / Revised: 9 August 2001 / Accepted: 9 August 2001