[Hepatic glycogen storage diseases: Symptoms, management and associated mutations]. / Enfermedades por depósito de glucógeno hepático: Clínica, manejo y mutaciones asociadas.

Glycogen storage diseases (GSD) are rare diseases derived from altered glycogen metabolism. This leads to glycogen storage in different organs such as muscle, kidney, and liver, resulting in a variety of clinical manifestations. GSD with liver involvement are classified into types I, III, IV, VI, and IX, depending on the enzymes affected. They are clinically characterized by hypoglycemia and hepato megaly as cardinal signs. Their diagnosis is initially based on clinical manifestations and laboratory test results. Nevertheless, diagnostic certainty requires a genetic study that identifies the specific mutation. Multiple mutations have been associated with each GSD. In Chile, since patients often lack the genetic study, the GSD genetic local characteristics are unknown. The treatment is based on dietary restrictions modulated according to the identified mutation. Today, the international consen sus indicates that early diagnosis allows better metabolic control and improves the patient's quality of life and prognosis. In this review, the information on GSD with liver involvement is updated to optimize the diagnosis, treatment, and follow-up of these patients, emphasizing specific nutritional and gastroenterological management.

A multicentre study to predict neonatal survival according to lung-to-head ratio and liver herniation in fetuses with left congenital diaphragmatic hernia (CDH): Hidden mortality from the Latin American CDH Study Group Registry.

OBJECTIVE: To evaluate natural history of fetuses congenital diaphragmatic hernia (CDH) prenatally diagnosed in countries where termination of pregnancy is not legally allowed and to predict neonatal survival according to lung area and liver herniation. METHODS: Prospective study including antenatally diagnosed CDH cases managed expectantly during pregnancy in six tertiary Latin American centres. The contribution of the observed/expected lung-to-head ratio (O/E-LHR) and liver herniation in predicting neonatal survival was assessed. RESULTS: From the total population of 380 CDH cases, 144 isolated fetuses were selected showing an overall survival rate of 31.9% (46/144). Survivors showed significantly higher O/E-LHR (56.5% vs 34.9%; P < .001), lower proportion of liver herniation (34.8% vs 80.6%, P < .001), and higher gestational age at birth (37.8 vs 36.2 weeks, P < 0.01) than nonsurvivors. Fetuses with an O/E-LHR less than 35% showed a 3.4% of survival; those with an O/E-LHR between 35% and 45% showed 28% of survival with liver up and 50% with liver down; those with an O/E-LHR greater than 45% showed 50% of survival rate with liver up and 76.9% with liver down. CONCLUSIONS: Neonatal mortality in CDH is higher in Latin American countries. The category of lung hypoplasia should be classified according to the survival rates in our Latin American CDH registry.

Platelets in liver and renal disease.

This review will discuss how 2 common and morbid conditions, renal disease and liver disease, alter platelet number and function. It will review the impact of thrombocytopenia on bleeding complications in patients with these disorders and whether the low platelet count actually correlates with bleeding risk. Emerging data also suggest that platelets are much more than bystanders in both renal and liver disease, but instead play an active role in the pathobiology of these disorders. This review will briefly cover the emerging information on novel roles of platelets in the biology of renal and liver disease.

Liver morphologic analysis in perinatal autopsies with intrauterine stress liver morphology in perinatal autopsies.

Quantify steatosis, fibrosis, and focuses of extramedullary erythropoiesis (ER) in the liver and report it to the causes of death in the perinatal. Morphologic analysis of steatosis', percentage of fibrosis, and ER of 467 perinatal autopsies. Cases with hypoxia/perinatal anoxia and ascending infection showed higher percentage of fibrosis. The number of ER was significantly higher among premature infants and in cases with infection. Our results contribute to a better quality of perinatal care through clinical demonstration of which injuries are associated with them, what may help in early diagnosis of these alterations in children who survive.

[Right Bochdalek hernia and liver situs solitus in an adult. A clinical case]. / Hernia de Bochdalek derecha del adulto con situs solitus de hígado. Presentación de un caso.

The Bochdaleck's hernia is an anatomical defect of posterolateral region of the diaphragm that lets abdominal structures go inside the thorax. It has an incidence of 1 in 2000 to 5000 of newborn alive, without difference of sex. This defect is very common in the neonatal period and rare in adult age. We present a case of a male patient 32 years old, with the definitive diagnosis of Bochdalek hernia. The diagnosis was made by radiographic findings, with a few digestive symptoms. Confirmatory diagnosis was made by axial tomography computerized that found part of bowel in right hemithorax and pulmonary hypoplasy, with liver in situs solitus. The patient received medical treated only. The patient did not receive surgical treatment because it is supposed that this kind of treatment has more risks than benefits.

[Surgical treatment of congenital cysts of the liver]. / Tratamiento quirúrgico de los quistes congénitos del hígado.

We report 9 patients who were surgically treated for symptomatic congenital liver cysts. Median age at presentation was 51 years and all the cases were females. Symptoms and clinical findings included a painful mass in the upper right quadrant of the abdomen. Ultrasonography was used most frequently and was an accurate technique for diagnosing these lesions. The cysts were often located in the right hepatic lobe. Surgical technique included total excision (n = 6) and partial excision via fenestration (n = 3). Based in our limited experience we believe that fenestration constitutes the least aggressive approach with a high rate of symptom relief and should be considered as an alternative in the treatment of these lesions.

Congenital solitary non-parasitic cyst of the liver.

Although non-parasitic cysts of the liver have often been described in adults, solitary non-parasitic cysts are rare in infants. We report a 17-month-old child with a large hepatic cyst.

Cisto hepático congênito: uma rara causa de massa abdominal na infância / Congenital cyst of the liver: a rare cause of the abdominal mass in childhood

Os autores relatam um caso de cisto hepático congênito solitário näo-parasitário em paciente feminino em 12 anos de idade com história de aumento progressivo de volume abdominal. A confirmaçäo diagnóstica foi feita através de excisäo cirúrgica do cisto, com avaliaçäo anatomopatológica. É uma afecçäo benigna e rara, tendo sido descrito até hoje somente cerca de 500 casos

Liver disease in neonatal lupus erythematosus.

We report the cases of neonatal lupus erythematosus associated with significant hepatic involvement in three living infants and in one infant who died 3 hours after delivery. The three living infants had neonatal cholestasis as a major component of their clinical findings. Pathologic changes included giant cell transformation, ductal obstruction, and extramedullary hematopoiesis. Liver involvement has been noted incidentally in children with neonatal lupus erythematosus, but it has generally been attributed to hemodynamic compromise as a result of congenital heart block or systemic toxic reactions. We speculate that neonatal hepatitis proceeding to hepatic fibrosis may occur in neonatal lupus erythematosus, analogous to the occurrence of "idiopathic" congenital heart block. The neonatal hepatitis associated with neonatal lupus erythematosus is a form distinguishable from the "idiopathic" group. Liver involvement may be more common than was previously recognized, and prospective studies to look for maternal autoantibodies in idiopathic neonatal liver disease should be undertaken.

Changing perspectives on liver transplantation in 1988.

After liver transplantation for cancer, there is a high incidence of disease recurrence within 18 to 36 months for most tumors, although there are a small number of long-term survivors. An extended resection of the upper abdominal viscera with replacement by a liver-pancreas cluster is being tried in Pittsburgh for lesions which have not been successfully managed with liver transplantation alone. Despite a high incidence of graft reinfection after liver transplantation for hepatitis B virus (HBV) related disease, a significant proportion of patients achieve long-term survival. Hyperimmune globulin and interferon have been of little benefit in preventing reinfection. Clinical trials with a human monoclonal antibody to HBsAg are in progress. Transplantation for alcoholic liver disease has been considered controversial. However, survival after liver transplantation for Laennec's cirrhosis is comparable to survival after liver transplantation for other chronic, benign, and non-HBV related liver diseases. Sclerotherapy followed by liver transplantation is the treatment of choice for patients with acute hemorrhage from esophageal varices and end-stage liver disease. Sclerotherapy alone or followed by selective shunting is an appropriate alternative in patients with good hepatic reserve. Only 25% of infants with biliary atresia benefit from portoenterostomy. To meet the demand for small infants waiting for transplantation, several transplant programs have successfully expanded their efforts to use partial (reduced) liver grafts. Cyclosporine and low-dose prednisone remain the basis for immunosuppression after liver transplantation. However, nephrotoxicity and hypertension are frequent and troublesome side effects of cyclosporine. Triple and quadruple drug regimens have been increasingly popular in an effort to minimize cyclosporine toxicity. Phase 1 clinical trials with a new drug, FK506, recently began in Pittsburgh. Hyperacute rejection of the liver has been demonstrated in animal models and has been strongly suspected in recent clinical descriptions of acute hemorrhagic necrosis after liver transplantation. So far, only transplantation across an ABO incompatibility has been identified as a risk factor for hyperacute rejection. The new preservation solution developed by Belzer and associates at the University of Wisconsin has significantly extended the preservation time for liver grafts, and improved the quality of liver preservation.

Fibrose hépatica congênita: relato de caso / Congenital hepatic fibrosis: a case report

Säo apresentados os dados clínicos, laboratoriais, cirúrgicos e de evoluçäo de um paciente de 26 anos, portador de fibrose hepática congênita. Foi indicado tratamento cirúrgico, tendo em vista os episódios recorrentes de hematêmese e alto nível de hipertensäo portal. A evoluçäo pós-operatória (dez meses) foi satisfatória. Säo discutidos os aspectos clínicos e anátomo-patológicos dessa doença

Riñón poliquístico infantil / Infantile polycystic kidney

Se presentan 8 casos de Riñón Poliquístico Infantil y se expone la nueva teoría que lo liga a la fibrosis hepática congénita, situando ambas entidades como dos elementos de un mismo cuadro clínico. Los casos presentados reúnen todas las características clínicas y de laboratorio requeridas para el diagnóstico recomendándose la ecografía renal para efectuarlo. Se destaca la magnitud de la hipertensión arterial, de muy difícil manejo, hecho también consignado en la literatura

Secretory diarrhea with protein-losing enteropathy, enterocolitis cystica superficialis, intestinal lymphangiectasia, and congenital hepatic fibrosis: a new syndrome.

Four infants had noninfectious intractable diarrhea, vomiting, anasarca, hepatomegaly, hypoglycemia, and malnutrition within the first 3 months of life. Their parents originated from the same Northeastern part of Quebec, and consanguinity was found in two kindreds. Diarrhea was secretory in three infants (mean stool volume 87 ml/kg/day, Na+ 108 mEq/L, Cl- 85 mEq/L). Hypoalbuminemia (mean 2.0 gm/dl), present in all infants, appeared to be secondary to a protein-losing enteropathy, which was documented in two infants. Histologic examination of the upper small intestine showed only mild to moderate villous atrophy. The remarkable findings were those of cystic dilation of the crypts and acute inflammation of crypts and lamina propria, all of which were most prominent in the colon and terminal ileum; the changes were progressive over time. Mild lymphangiectasia was found in all of the patients. Congenital hepatic fibrosis, present in all, was associated in one patient with a nonfunctional multicystic kidney. Prolonged total parenteral nutrition, intravenously administered albumin, antisecretory agents, and antibiotics were unsuccessful in controlling the disease. Although a total colectomy was followed by a temporary decrease in stool output and normalization of serum albumin concentration in one infant, the patients died between 4 and 21 months of age.