Israel Medical Association Journal

Background: Cystinuria is an autosomal recessive disease that is manifested by kidney stones   and is caused by mutations in two genes: SLC3A1 on chromosome 2p and SLC7A9 on chromosome 19q. Urinary cystine levels in obligate carriers are often, but not always, helpful in identifying the causative gene.

Objectives: To characterize the clinical features and analyze the genetic basis of cystinuria in an inbred Moslem Arab Israeli family.

Methods: Family members were evaluated for urinary cystine and amino acid levels. DNA was initially analyzed with polymorphic markers close to the two genes and SLC7A9 was fully sequenced.

Results: Full segregation was found with the marker close to SLC7A9. Sequencing of this gene revealed a missense mutation, P482L, in the homozygous state in all three affected sibs.

Conclusions: A combination of urinary cystine levels in obligate carriers, segregation analysis with polymorphic markers, and sequencing can save time and resources in the search for cystinuria mutations.
 

Background: Q fever is endemic in Israel, yet a large series describing the clinical spectrum of inpatients with acute Q fever in Israel is lacking. 

Objectives: To report on the clinical characteristics and outcome of hospitalized patients with acute Q fever in Israel. 

Methods: We conducted a retrospective study of 100 patients hospitalized in six medical centers, in whom acute Q fever was diagnosed by the presence of immunoglobulin G and M antibodies to phase II Coxiella burnetti antigens. 

Results: The mean age of the patients was 42.7 ± 17.3 years with a male to female ratio of 1.6:1. Acute Q fever occurred throughout the year but was more common during the warm season. The most common clinical presentation was acute febrile disease (98%, mean length of fever 15.5 ± 8.6 days), followed by hepatitis (67%) and pneumonia (32%). The prominent laboratory findings included: accelerated erythrocyte sedimentation rate, normal or low white blood count with many band forms, thrombocytopenia, and abnormal urinalysis. Although the diagnosis of acute Q fever was not known during the hospitalization in the majority of patients, about 80% of our patients received appropriate antibiotic therapy and all patients recovered. 

Conclusions: Patients with acute Q fever present with a typical clinical picture that enables clinical diagnosis and empiric therapy in most cases. The prognosis of hospitalized patients with acute Q fever is excellent.