1/26. 'Durate variant with clinical signs' has alpha1 -antitrypsin genotype ZZ.A patient with neonatal jaundice and cirrhosis who was previously reported homozygous for the Durate variant of galactose-1-phosphate uridyl transferase has the ZZ genotype for alpha1-antitrypsin. A sister of the patient, also with ZZ genotype, is less severly affected with liver disease and is a heterozygote for the Durate variant. Since a number of patients with ZZ genotype of alpha1-antitrypsin have been previously reported to have liver disease, the latter genotype is the more probable explanation for the patients' clinical state. A question is raised, however, whether the Duarte variant may be specifically associated with the development of liver disease in ZZ individuals.- - - - - - - - - - ranking = 1keywords = antitrypsin, alpha (Clic here for more details about this article) |
2/26. alpha1-Antitrypsin deficiency and liver disease in children.This report describes the clinical, biochemical, and hepatic morphologic findings in ten children with severe serum alpha1-antitrypsin deficiency. Genetic protease inhibitor (Pi) phenotyping, using acid-starch gel and crossed antigen-antibody electrophoresis, demonstrated Pi phenotype ZZ in all our cases. In eight patients, manifestations of liver disease appeared during the first year of life. The case reports show that alpha1-antitrypsin deficiency should be suspected in any child with neonatal hepatitis, unexplained hepatomegaly or splenomegaly, or cirrhosis. In our report, one infant is normal at age 6 months, and one infant had progressive hepatic damage that culminated in liver failure and death at age 6 months. The variable clinical course and prognosis for infants with severe alpha1-antitrypsin deficiency is well illustrated by these two infants.- - - - - - - - - - ranking = 4.7028081633915keywords = antitrypsin deficiency, antitrypsin, deficiency, alpha (Clic here for more details about this article) |
3/26. Infantile cholestatic jaundice associated with adult-onset type II citrullinemia.adult-onset type II citrullinemia, characterized by a liver-specific argininosuccinate synthetase deficiency, is caused by a deficiency of citrin that is encoded by the SLC25A13 gene. Three patients with infantile cholestatic jaundice were found to have mutations of the SLC25A13 gene. adult-onset type II citrullinemia may be associated with infantile cholestatic disease.- - - - - - - - - - ranking = 0.0085105480168896keywords = deficiency (Clic here for more details about this article) |
4/26. Acute hemolysis and severe neonatal hyperbilirubinemia in glucose-6-phosphate dehydrogenase-deficient heterozygotes.Two premature female infants had severe hyperbilirubinemia caused by hemolysis. Both neonates were heterozygotes for the glucose-6-phosphate dehydrogenase Mediterranean mutation as determined by dna analysis. glucose-6-phosphate dehydrogenase-deficient heterozygotes may be susceptible to the complications of this enzyme deficiency.- - - - - - - - - - ranking = 0.0042552740084448keywords = deficiency (Clic here for more details about this article) |
5/26. Upshaw-Schulman syndrome revisited: a concept of congenital thrombotic thrombocytopenic purpura.Upshaw-Schulman syndrome (USS) is a congenital bleeding disorder characterized by repeated episodes of thrombocytopenia and microangiopathic hemolytic anemia that respond to infusions of fresh frozen plasma. Inheritance of USS has been thought to be autosomal recessive, because 2 siblings in the same family are often affected but their parents are asymptomatic. Recently, chronic relapsing thrombotic thrombocytopenic purpura (CR-TTP), reported almost exclusively in adults, was shown to be caused by inherited or acquired deficiency in the activity of a plasma von willebrand factor-cleaving protease (vWF-CPase). The pathogenesis of USS is unknown, and a relationship between CR-YEP and USS has not been reported. We studied 3 unrelated USS patients (ST, SY, and KI) who presented with severe indirect neonatal hyperbilirubinemia. All 3 patients had undetectable vWF-CPase activity, and the inhibitors to vWF-CPase were all negative. In their parents with no clinical symptoms, vWF-CPase activities as a percentage of control samples (mother/father) were 17/20 for ST, 60/45 for SY, and 36/5.6 for KI. Thus, USS and vWF-CPase activity appear to be coinherited as autosomal recessive traits. Transfusion of fresh frozen plasma in 2 patients (ST and SY) resulted in the expected maximal increment of approximately 7% to 8% in vWF-CPase activity at 1 to 4 hours, but the levels became less than 3% within 2 days. After this decrease, platelet counts increased, plateaued in the normal range at 10 to 12 days, and declined thereafter. Thus, the 2 to 3 weeks of therapeutic benefit from plasma infusions will be discussed in relation to the intravascular lifetime of vWF-CPase.- - - - - - - - - - ranking = 0.0042552740084448keywords = deficiency (Clic here for more details about this article) |
6/26. Low glucose-6-phosphate dehydrogenase enzyme activity level at the time of hemolysis in a male neonate with the African type of deficiency.glucose-6-phosphate dehydrogenase (G6PD) levels are not usually drawn in the evaluation of black neonates with hyperbilirubinemia because of the oft-stated opinion that the levels may be normal at the time of hemolysis and thus will be misleading. In fact, this opinion is not applicable to newborns as many studies have shown that deficiency in the conjugating ability of the liver, not hemolysis, is the main cause of neonatal jaundice associated with G6PD deficiency. We present a case report of a neonate with brisk hemolysis and hyperbilirubinemia in whom the G6PD level was abnormally low at the time of the hemolytic episode. dna analysis showed him to have the A-(202A,376G) variant and, as well, the UGT1A1 promoter repeat polymorphism associated with Gilbert's disease. This case, as well as a review of the literature, indicates that enzyme levels are not normal in patients with G6PD A- who are undergoing hemolysis.- - - - - - - - - - ranking = 0.025531644050669keywords = deficiency (Clic here for more details about this article) |
7/26. glucose-6-phosphate dehydrogenase variants from Italian subjects associated with severe neonatal jaundice.Screening for the G6PD deficiency was carried out at the Maternity Division of the Galliera Hospital in Genoa, italy. Two groups of subjects with hyperbilirubinaemia of non-immunological origin were examined: (a) 302 newborn babies of Sardinian extraction (on cord blood) and (b) 201 newborn babies of south Italian ancestry (on peripheral blood). Among 503 subjects, 43 showed an enzyme deficiency; in 39 the defect was of the Mediterranean type. In one case, previously described, the enzyme was of the A- type. In the remaining cases three different variants were identified. In the present work these three cases, each with severe neonatal jaundice, are reported. Their parents originated from Calabria, from Sardinia and from sicily. The abnormal enzymes are respectively designated as GdDcbrousse-like,, GdGallura and GdAgrigento.- - - - - - - - - - ranking = 0.0085105480168896keywords = deficiency (Clic here for more details about this article) |
8/26. hemolysis and hyperbilirubinemia in an African American neonate heterozygous for glucose-6-phosphate dehydrogenase deficiency.Despite recent case reports of bilirubin encephalopathy in African American glucose-6-phosphate dehydrogenase (G6PD)-deficient neonates, there is a misconception that, in african americans, G6PD deficiency need not be considered in the differential diagnosis of hyperbilirubinemia. We present a case of a hyperbilirubinemic African American female neonate in whom coexisting G6PD deficiency in the heterozygous state, and Gilbert's syndrome, were confirmed by dna analysis. hemolysis, predictive of the subsequent icterus, was documented by end-tidal carbon monoxide determinations at two time periods within the first 25 hours of life. A diagnosis of G6PD deficiency should be considered in African American neonates, females as well as males, with unexplained hemolysis or hyperbilirubinemia.- - - - - - - - - - ranking = 0.029786918059113keywords = deficiency (Clic here for more details about this article) |
9/26. Hyporegenerative anemia associated with Rh hemolytic disease: treatment failure of recombinant erythropoietin.A postnatal hyporegenerative anemia may complicate Rh hemolytic disease. Intramedullary hemolysis, bone marrow suppression, and erythropoietin deficiency have been implicated etiologically. Treatment with recombinant erythropoietin (r-EPO) has yielded encouraging preliminary results. The authors describe an infant with rh isoimmunization who developed severe hyporegenerative anemia unresponsive to a 5-week course of r-EPO. Two additional doses at 12 weeks resulted in brisk reticulocytosis, coinciding with a 16-fold decline in the anti-Rh(D) antibody titer. Thus, treatment with r-EPO may be ineffective when anti-Rh(D) antibody titers are high. The authors also show that erythropoietin deficiency in hyporegenerative anemia is not as frequent and severe as originally thought.- - - - - - - - - - ranking = 0.0085105480168896keywords = deficiency (Clic here for more details about this article) |
10/26. Thrombotic thrombocytopenic purpura in a newborn.This report describes a newborn who presented with hyperbilirubinemia and thrombocytopenia. The patient recovered after treatment with antibiotics, phototherapy, and a platelet transfusion. Analysis of the plasma von willebrand factor-cleaving metalloprotease, ADAMTS13, revealed low protease activity in the patient and her two siblings, and a mild deficiency in both parents. These results confirmed the clinical suspicion of hereditary thrombotic thrombocytopenic purpura (TTP). Although most cases of thrombocytopenia and hyperbilirubinemia in the newborn period are caused by other causes, genetic deficiency of ADAMTS13 may not be as uncommon as previously believed. early diagnosis may have important implications for the patients.- - - - - - - - - - ranking = 0.0085105480168896keywords = deficiency (Clic here for more details about this article) |
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