ABSTRACT
Urea cycle defects belong to the most common metabolic disorders with a cumulative incidence of 1:8000. A common trait of urea cycle defects is a disturbed detoxification of ammonia leading to hyperammonemia in the event of a high nitrogen load. Most patients develop symptoms in the neonatal period or in infancy, e. g. vomiting, seizures and disturbed consciousness. Depending on the affected enzyme and its residual activity, patients differ in the age at first presentation, the character and severity of symptoms and in the susceptibility to metabolic derangement. The presence of hyperammonemia and an altered plasma amino acid profile give the essential diagnostic clues. Since modern therapeutic measures have prolonged the life expectancy of these patients and provided the possibility of a first presentation in adulthood, patients with urea cycle defects have become an increasing challenge in internal medicine. The reported case series illustrates the heterogeneous clinical course of these disorders from childhood to adulthood.
Subject(s)
Urea Cycle Disorders, Inborn/diagnosis , Urea Cycle Disorders, Inborn/therapy , Adult , Female , Humans , Male , Middle Aged , Young AdultABSTRACT
BACKGROUND: Immigrants to Germany and their children are at particular risk for tuberculosis (TB). - METHODS: 35 Patients (10 male / 25 female aged 2 - 59 years (median 33 years) originating mostly from high incidence countries in Asia (19 (54.3%)) in Africa (14 (40.0%) and East Europe (2 (5.7%)), attended at the Tropical Medicine Unit were analysed. - RESULTS: Primary clinical presentation was most frequently lymphadenitis (13 (37.1%)). Other organs involved included bones (7 (20.0%)), central nervous system (5 (14.3%)), urogenital organs (3 (8.6%)), lung (3 (8.6%)), mediastinum, (2 (5.7%)) and abdomen (2 (5.7%)). ESR was abnormal in 21/28 (75.0%), CRP in 20/35 (57.1%), and protein electrophoresis in 22/26 (84.6%) cases. The tuberculin skin test was strongly positive in all 15 cases where the test had been performed. Tuberculosis interferon gamma release assay (TB-IGRA) was positive in all 35 cases (100%). PCR for nucleic acids of Mycobacterium (M.) tuberculosis complex was positive in only 7/20 (35.0%) cases. M. tuberculosis was identified in 32/35 (91.4%), M. bovis in 2 (5.7%) cases. 1 case was diagnosed clinically. All patients were negative for HIV. Typical histopathology was seen in the 29 cases, where biopsies had been taken. Chest-X-ray did not reveal specific pulmonary lesions in the majority of cases (22/35 (62.9%)). Diagnosis of TB was mostly delayed (4 to 299 weeks, (median 8)). The most frequent primary suspicion was a malignancy (17/35 (48.6%)) while TB was initially suspected in 5 cases only. Diagnosis of TB is impeded by its multifaceted presentation especially in immigrants.