جستجوی مقالات مرتبط با کلیدواژه "wolfram syndrome" در نشریات گروه "پزشکی"

Wolfram syndrome (WS) is a rare autosomal recessive neurodegenerative disease with variable symptoms, including neuropsychiatric manifestations. A 26-year-old man was reported with classic symptoms of WS and repetitive psychiatric hospitalizations and at least 16 suicidal attempts. The genetic study demonstrated a novel homozygous stop-codon mutation on the WFS1 gene. This special type of mutation may be related to repetitive suicidal behaviors in this case of WS. Psychological support should be a routine practice in patients with WS.

To study the genetic basis and clinical manifestations of Wolfram syndrome in a multi-affected family.

Complete clinical examinations including urological, ophthalmic, neurological, and endocrinologic assessment were performed for three affected family members. Genomic DNA was extracted from peripheral blood leukocytes with salting out method and all WFS1 exons and their flanking regions were sequenced. Candidate variation was screened for segregation in the pedigree by Sanger sequencing.

A known pathogenic missense mutation in WFS1 gene (c.1885C>T which leads to p.Arg629Trp in the encoded protein) was identified in all affected individuals. Both clinical and genetic investigations confirmed Wolfram syndrome diagnosis with variable phenotypic features.

Identical mutations in the Wolfram syndrome causative gene can lead to variable manifestations of the syndrome even in the same family. Although the medical findings and clinical examination are imperative for the diagnosis of Wolfram syndrome, genetic testing is useful to confirm the diagnosis, especially in cases with possible reduced penetrance of the characteristic signs.

 Upper urinary tract dilation, the most common urological manifestation of the Wolfram syndrome (WS), is mainly non-obstructive and secondary to other components of the disease such as diabetes insipidus. Misdiagnosis of the type of the hydroureter in Wolfram patients and encountering them as obstructive uropathies has led to ineffectual surgeries such as ureter re-implantation. Based on previous studies drainage related ultrasonography (DRUS) is a beneficial means of distinction between obstructive and non-obstructive hydroureters.

 To avoid unnecessary interventions in patients with WS by detecting hydroureters’ types using DRUS.

 Seven patients (14 ureters) with a mean ± SD age of 24.43 ± 4.25 months who were diagnosed with WS were included in this retrospective study. The definite diagnosis of the non-obstructive type of hydroureter was assessed by appropriate imaging modalities. The maximum diameter of these 14 ureters, before (D1) and after (D2) 3 hours of catheterization were observed by ultrasonography. Values were recorded as D ratio ( [(|D1 - D2|)/D1] × 100) and the cutoff point of 22% for D ratio was set to discriminate the subtypes of the hydroureter.

 Measurement of maximum diameter of ureter prior to catheterization indicated a mean ± SD diameter of 20.64 ± 2.73 mm; decreasing to 11.07 ± 2.64 mm after 3 hours of catheterization which indicates a significant decrease. Mean D ratio of 14 hydroureters was 45.95 ± 13.01% which indicated significantly higher percentage than 22%, revealing that hydroureters’ type in WS is non-obstructive.

 DRUS is a useful method for the assessment of the hydroureter’s type in WS and it could prevent performing unnecessary surgeries in WS patients.