Elsevier

The Journal of Pediatrics

Volume 126, Issue 2, February 1995, Pages 246-251
The Journal of Pediatrics

Lysinuric protein intolerance characterized by bone marrow abnormalities and severe clinical course,☆☆,,★★

https://doi.org/10.1016/S0022-3476(95)70552-XGet rights and content

Abstract

Study objective: To evaluate phenotypic variability of lysinuric protein intolerance in a cohort of nine Italian patients. Design: Retrospective analysis of patient records. Subjects: Nine Italian patients (seven independent families), all originating from southern Italy, observed during the last 14 years. Results: Some of the patients had unique clinical features, including bone marrow abnormalities featuring erythroblastophagocytosis (five patients) and acute pancreatitis (two patients). Severe complications, known to affect the clinical course and the outcome of the disease, have also been observed: respiratory involvement was present in five cases, with a lethal picture of "alveolar proteinosis" in one. Severe kidney involvement, with both glomerular and tubular damage and rapidly progressing to chronic renal failure, has been observed in one case. Conclusion: Lysinuric protein intolerance may cause severe multisystem involvement, which requires early and careful monitoring. Some peculiar clinical findings observed in Italian patients point to a genetic heterogeneity of lysinuric protein intolerance. (J PEDIATR 1995;126:246-51)

Section snippets

CASE REPORTS

All nine patients (Table), from seven families, were born in two regions of southern Italy, Campania (seven) or Calabria (two). In all families the patients' parents originated from the same geographic area; consanguinity was confirmed in three families. In two families remote consanguinity can be supposed because of the presence of common last names in the maternal and paternal ancestries. The diagnosis of LPI relied on both clinical and biochemical criteria. In all patients, biochemical

DISCUSSION

Approximately half of the patients with LPI have been described in Finland, where the disease has a prevalence of about 1:60,000. LPI appears to be much more rare in other populations, where only sporadic cases have been found.10 In Italy, however, a multicenter study has recently collected 17 cases, including those described here.5 Three additional cases have recently been referred to our attention (Magazzù G, Dionisi Vici C, Rizzoni G: personal communication, 1994). All subjects came from

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From the Departments of Pediatrics and Pathology, Federico II University, Naples, and the Department of Pediatrics, University of Reggio Calabria, Catanzaro, Italy

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Supported in part by Ministero della Sanitá, "Progetto Gaslini Nord e Sud—Malattie genetiche—1991," Rome, Italy, and in part by Telethon Italy (grant No. E.09).

Reprint requests: Generoso Andria, MD, Department of Pediatrics, Federico II University, Via S. Pansini 5, 80131 Naples, Italy.

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0022-3476/95/$3.00 + 0 9/20/60161

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