Intermittent hemophagocytic lymphohistiocytosis is a regular feature of lysinuric protein intolerance.
ABSTRACT We describe 4 cases of lysinuric protein intolerance, which all fulfilled the diagnostic criteria for hemophagocytic lymphohistiocytosis. Mature histiocytes and neutrophil precursors participated in hemophagocytosis in the bone marrow. Moreover, serum levels of ferritin and lactate dehydrogenase were elevated, hypercytokinemia was present, and soluble interleukin-2 receptor levels were increased up to 18.6-fold. The diagnosis of lysinuric protein intolerance should therefore be considered in any patient presenting with hemophagocytic lymphohistiocytosis.
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ABSTRACT: The serum of children with untreated hemophagocytic syndromes contains elevated levels (23,600 to 75,200 U/mL) of soluble interleukin-2 receptor (SIL2R) that returns toward normal with clinical improvement. These levels are in excess of levels previously reported for benign conditions. They are as high as levels reported for HTLV-1-associated adult T-cell leukemia (HATL) and hairy cell leukemia (HCL) in adults and some children with poor-prognosis non-T, non-B, acute lymphoblastic leukemia (ALL). Serum SIL-2R is a marker of disease activity that has the potential to identify infants at risk for the inherited form of the disease before the disease is clinically expressed.Blood 07/1989; 73(8):2128-32. · 9.06 Impact Factor
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ABSTRACT: During the last 4 years we have diagnosed lysinuric protein intolerance (LPI) in two unrelated boys (7 and 3 years old) living in the area around Naples. One of the patients, already reported in the literature as having a possible storage disease, shows peculiar haematological findings and striking joint hyper-extensibility. Both patients have been treated successfully with arginine supplementation and low protein diet. These two cases suggest that LPI might not be so rare in the Neapolitan area and arginine supplementation and low protein diet still represent an acceptable low-cost treatment of the disease. The presence of joint and bone marrow abnormalities in one of the patients, whether casual or due to genetic heterogeneity, should be further investigated.Journal of Inherited Metabolic Disease 01/1981; 4(1):151-152. · 4.07 Impact Factor
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ABSTRACT: To evaluate phenotypic variability of lysinuric protein intolerance in a cohort of nine Italian patients. Retrospective analysis of patient records. Nine Italian patients (seven independent families), all originating from southern Italy, observed during the last 14 years. Some of the patients had unique clinical features, including bone marrow abnormalities featuring erythroblastophagocytosis (five patients) and 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. 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.Journal of Pediatrics 03/1995; 126(2):246-51. · 4.04 Impact Factor