תוצאת חיפוש

Liver Failure with Coagulopathy in an Infant with Tyrosinemia

Moshe Nussinovitch, Gadi Campino, Rivka Shapira, Benjamin Voluvitz, Jacob Amir

Department of Pediatrics, Schneider Children's Medical Center of Israel, Petah Tikva, Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel

Tyrosinemia is an inherited autsomal recessive condition. We present a 5 week-old boy with this disorder. He was admitted because of a fever, vomiting and lethargy. The laboratory tests confirmed a coagulopathy with prolonged prothrombin time (PT), partial thromboplastin time (PTT) and a decreased serum fibrinogen. The a-fetoprotein level was markedly elevated. To confirm the diagnosis of tyrosinemia, quantitative urinary succinylacetone was measured. Although overt liver failure with coagulopathy may be part of the representation of tyrosinemia, a significant coagulopathy in the absence of overt signs of liver disease has not been emphasized as a clue to the diagnosis of this condition.

Acetaminophen Toxicity in Children - A Therapeutic "Misadventure"

Sarit Shahroor, Yigal Shvil, Mely Ohali, Esther Granot

Dept. of Pediatrics, Hadassah University Hospital and Hebrew University Hadassah Medical School, Jerusalem; and Dept. of Pediatrics, Barzilai Medical Center, Ashkelon

Acetaminophen toxicity after repeated administration of amounts that only moderately exceed recommended doses, is being increasingly reported in alcoholic or fasting adults. Pediatric experience with this pattern of acetaminophen toxicity is sparse.

We present 2 children who developed severe hepatic damage, with renal insufficiency as well in 1, after 15-20 mg/kg of acetaminophen, given at 4-hour intervals for 3-4 days during an intercurrent febrile illness. When given in doses as low as 20 mg/kg at frequent intervals for a number of days, the drug puts children who are vomiting or have sharply reduced caloric intakes at increased risk for severe toxicity.

Increased caution and awareness of the toxic effects of acetaminophen are needed, and it should be dispensed with appropriate package-label warnings.

Left Ventricular Outflow Tract Obstruction without Left Ventric-Ular Hypertrophy Treated with Ace Inhibitors

Jacob Feldman, Irit Laxer, Abraham Yaretzky

Geriatric Dept., Meir Hospital, Sapir Medical Center, Kfar Saba, and Sackler Faculty of Medicine, Tel Aviv University

We describe a very unusual case of sudden, severe worsening of congestive heart failure which was caused by ACE inhibitors. Diagnosis was made by echocardiogram showing a typical picture of dynamic, left ventricular outflow tract obstruction without left ventricular hypertrophy, which disappeared on discontinuing ACE inhibitors. This phenomenon has already been described as a complication of other drugs such as nitrates, commonly used as provocative tests for latent obstructive cardiomyopathy. To our knowledge ACE inhibihave not been described as a causative factor.

ACE Gene Polymorphism in a Diabetic Cohort and Diabetic Nephropathy

Orna Levinson, Shmuel Oren, Chana Yagil, Marina Sapojnikov, Alexander Wechsler, Rosanna Bloch, Yoram Yagil

Laboratory for Molecular Medicine, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheba and Barzilai Medical Center, Ashkelon

The renin-angiotensin system is thought to play an important role in the pathophysiology of kidney disease in diabetes. Previous studies have shown a possible association between the D allele of the angiotensin converting enzyme (ACE) gene, known to be associated with higher circulating levels of ACE, and increased risk of developing nephropathy in NIDDM. The present study investigated the distribution of ACE gene genotypes in the general population and patients with NIDDM, the association between the D allele and diabetic nephropathy, and the association between the ACE genotype and involvement of other target organs in NIDDM. The ACE genotype (insertion/deletion I/D) was determined in all subjects, subsequently divided into 3 groups based on their polymorphism (DD, DI and II). The presence of nephropathy was defined by an albumin-creatinine ratio of 30 mg/g or greater (mean of 2 first morning urine samples).

In the general population most had the D allele (DD or ID) and a minority the II genotype. There was no association between genotype and hypertension, ischemic heart disease, hyperlipidemia, and cerebrovascular or peripheral vascular disease. In diabetics the genotype distribution was not different from that in the general population. Within the diabetic group, there was no association between genotype and hypertension, hyperlipidemia, duration of diabetes, or HbA1C levels. Nephropathy, found in 81 of the 156 with NIDDM, was not associated with genotype. Diabetic nephropathy was not associated with retinopathy, neuropathy, or ischemic heart, cerebrovascular or peripheral vascular disease. We conclude that in the population sampled, there was no association between the D allele of the ACE gene and the risk of developing nephropathy in NIDDM.