A nine year follow-up study of patients with lymphoedema cholestasis syndrome 1 (LCS1/Aagenaes syndrome).

The risks of developing energy or nutrient deficits are of great concern in infants and children with the rare lymphoedema cholestasis syndrome 1 (LCS1)/Aagenaes syndrome. In adolescents and adults, it is not known whether LCS1 patients need specific dietary advice outside periods of cholestasis. The primary objective of the present study was to evaluate the progression of the liver disease and nutritional status in patients with LCS1 over a period of nine years.

Hereditary lymphedema, characteristics, and variations in 17 adult patients with lymphedema cholestasis syndrome 1/Aagenaes syndrome.

Background: The characterizations of primary lymphedemas in different hereditary diseases are often published as case reports. In this study, 17 out of 20 Norweigian adult patients with lymphedema cholestasis syndrome 1 (LCS1)/Aagenaes syndrome were examined. The patients exhibited lymphedema and sporadic cholestasis.

CCBE1 mutation in two siblings, one manifesting lymphedema-cholestasis syndrome, and the other, fetal hydrops.

Background: Lymphedema-cholestasis syndrome (LCS; Aagenaes syndrome) is a rare autosomal recessive disorder, characterized by 1) neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age, and 2) severe chronic lymphedema, mainly lower limb. LCS was originally described in a Norwegian kindred in which a locus, LCS1, was mapped to a 6.6cM region on chromosome 15.

Advanced hepatocellular carcinoma in adolescence associated with congenital cholestasis: a case description.

This case describes the clinical course and treatment of a 17-year-old male patient with advanced hepatocellular carcinoma (HCC) arising in a non-cirrhotic liver. The disease was thought to be caused by a congenital cholestatic syndrome associated with intermittent oedema in childhood, resembling the rare Aagenaes syndrome. Treatment choices in advanced HCC arising in adolescence are discussed.

Familial occurrence of neonatal diabetes with duplications in chromosome 6q24: treatment with sulfonylurea and 40-yr follow-up.

We present a Norwegian family, followed since 1967, with a chromosome 6q24 duplication in two siblings with neonatal diabetes, in their non-diabetic father, and in a female (third generation) with adult-onset diabetes. The parents (first generation) were healthy and non-consanguineous. After a miscarriage, the couple had two infants with birth weights of 1780 and 1620 g, respectively, both of whom died on their second day of life.

Do patients with lymphoedema cholestasis syndrome 1/Aagenaes syndrome need dietary counselling outside cholestatic episodes?

Background & Aims: Patients with lymphoedema cholestasis syndrome 1/Aagenaes Syndrome need a fat reduced diet when cholestatic. We wanted to assess the need for dietary counselling outside cholestatic episodes, and hypothetized that no counselling was needed.

Methods: Fifteen patients above 10 years of age without symptoms of cholestasis were compared with a sex and age matched control group.

Prognosis, with evaluation of general biochemistry, of liver disease in lymphoedema cholestasis syndrome 1 (LCS1/Aagenaes syndrome).

Objective: To investigate the prognosis of liver disease in Aagenaes syndrome (lymphoedema cholestasis syndrome 1 (LCS1)), which is an autosomal recessive inherited syndrome consisting of neonatal cholestasis with intermittent cholestatic episodes in childhood into adulthood and development of lymphoedema. Forty Norwegian patients are known to have this condition, 25 of whom are alive. A clinical description of the liver disease is supplied with a case-control study.

Evidence for genetic heterogeneity in lymphedema-cholestasis syndrome.

Lymphedema-cholestasis syndrome (LCS, Aagenaes syndrome) is the only known form of hereditary lymphedema associated with cholestasis. A locus, LCS1, has recently been mapped to chromosome 15q in a Norwegian kindred. In a consanguine Serbian Romani family with a neonate who had a combination of lymphedema and cholestasis with features atypical for Norwegian LCS, haplotype and linkage analysis of markers spanning the LCS1 region argue that a second LCS locus may exist.

Mapping of the locus for cholestasis-lymphedema syndrome (Aagenaes syndrome) to a 6.6-cM interval on chromosome 15q.

Patients with cholestasis-lymphedema syndrome (CLS) suffer severe neonatal cholestasis that usually lessens during early childhood and becomes episodic; they also develop chronic severe lymphedema. The genetic cause of CLS is unknown. We performed a genome screen, using DNA from eight Norwegian patients with CLS and from seven unaffected relatives, all from an extended pedigree.

Homozygous mutation (A228T) in the 5alpha-reductase type 2 gene in a boy with 5alpha-reductase deficiency: genotype-phenotype correlations.

The molecular basis of a patient with 5alpha-reductase deficiency was investigated in this study. This disease is a rare form of male pseudohermaphroditism with virilization during puberty. The child was raised as a girl, but had a male gender identity early in life.

Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB).

Glycogen storage disease due to phosphorylase kinase deficiency occurs in several variants that differ in mode of inheritance and tissue-specificity. This heterogeneity is suspected to be largely due to mutations affecting different subunits and isoforms of phosphorylase kinase. The gene of the ubiquitously expressed beta subunit, PHKB, was a candidate for involvement in autosomally transmitted phosphorylase kinase deficiency of liver and muscle.

[Familial hypercholesterolemia in children. A management program. Procedures for diagnosis and treatment in our pediatric departments].

A Norwegian programme for treatment and selective screening of familial hypercholesterolaemia has been developed which takes into account family history and levels of hypercholesterolaemia. The programme includes recommendations on when and whom to screen for familial hypercholesterolaemia. With regard to treatment, special emphasis is placed on diet.

The effect of 8 years of strict glycaemic control on peripheral nerve function in IDDM patients: the Oslo Study.

We have investigated the effect of long-term strict glycaemic control on peripheral and autonomic nerve function in 45 IDDM patients (age 18-42 years, diabetes duration 7-23 years) without clinical signs of neuropathy or other neurological disease. They were randomly assigned to treatment either with continuous insulin infusion, multiple injections (4-6 times daily), or conventional treatment (twice daily) for 4 years and followed prospectively for 8 years. Motor and sensory nerve conduction velocities were measured at the start and after 8 years.

[Hereditary intrahepatic cholestasis with lymphedema--Aagenaes syndrome].

Hereditary intrahepatic cholestasis with lymph oedema is now a well defined autosomal recessive inherited syndrome. More than 75% of the known cases (about 40) are Norwegian, and most of these came from a few communities in the south-western part of Norway. Cholestasis is present prior to or shortly after birth.

Continuous subcutaneous insulin infusion (CSII), multiple injections (MI) and conventional insulin therapy (CT) in self-selecting insulin-dependent diabetic patients. A comparison of metabolic control, acute complications and patient preferences.

Continuous subcutaneous insulin infusion (CSII) and multiple injections (MI) have been shown to have metabolic advantages in highly-selected insulin-dependent diabetics (IDDs), but there have been few comparative studies in self-selected IDDs. With MI, the optimal insulin preparation for overnight insulin delivery has not been defined. We compared conventional 2-3 injection therapy (CT), CSII and MI with human isophane insulin (MI/human isophane) and human ultralente insulin (MI/human ultralente), respectively, at bedtime in self-selected IDDs.

Microalbuminuria is associated with long term poor glycemic control in adolescent insulin dependent diabetics.

In insulin dependent diabetics microalbuminuria predicts proteinuria which is associated with an extremely high relative mortality rate. We studied the connection between long term blood glucose levels and microalbuminuria. One hundred and twenty-seven patients between 10-20 yr of age were screened for microalbuminuria.

Primordial birdheaded nanism associated with progressive ataxia, early onset insulin resistant diabetes, goiter and primary gonadal insufficiency. A new syndrome.

A new syndrome in two siblings with primordial birdheaded nanism, progressive ataxia, goiter, primary gonadal insufficiency and insulin resistant diabetes mellitus is presented. Plasma concentrations of TSH, PTH, LH, FSH, ACTH, glucagon and insulin all working through cell membrane receptors were elevated. A generalized cell membrane defect was suggested to be the pathophysiological abnormality in these patients.

Diabetic complications in a prepubertal adolescent.

A 13 year old boy, with a five year history of diabetes mellitus, developed a severe neuropathy and a transient deterioration of a background retinopathy after initiation of improved glycaemic control. This followed a long period of extremely poor metabolic control, with growth retardation and weight loss.

Reduction of urinary albumin excretion after 4 years of continuous subcutaneous insulin infusion in insulin-dependent diabetes mellitus. The Oslo Study.

Urinary albumin was studied in 45 patients with insulin-dependent diabetes in a 4-year prospective randomized trial, comparing continuous sc insulin infusion (CSII), multiple insulin injections, and conventional treatment with twice daily injections. Strict blood glucose control was obtained with CSII and multiple injections, better than with conventional treatment (2P less than 0.01): mean glycosylated haemoglobin (% HbA1 +/- SEM) after 4 years: CSII 9.