Senior-Løken syndrome misdiagnosed as nephrosclerosis related to hypertensive disorders of pregnancy

2020 ◽  
Vol 13 (10) ◽  
pp. e236137
Author(s):  
Yuri Hirai ◽  
Aya Mizumoto ◽  
Kensuke Mitsumoto ◽  
Takashi Uzu
Keyword(s):  
Renal Failure ◽  
Molecular Genetic ◽  
Homozygous Deletion ◽  
Molecular Genetic Analysis ◽  
Inherited Disease ◽  
Hypertensive Disorders Of Pregnancy ◽  
Gene Encoding ◽  
Hypertensive Disorders ◽  
Basement Membrane Thickening ◽  
End Stage

A 31-year-old woman with retinitis pigmentosa who had been diagnosed with renal failure due to nephrosclerosis related to hypertensive disorders of pregnancy was referred to our hospital to prepare for renal replacement therapy. Ultrasonography and MRI of the kidneys revealed multiple corticomedullary cysts. A renal biopsy showed that the tubules were tortuous and atrophic with segmented tubular basement membrane thickening. These findings indicated that she had Senior-Løken syndrome. A molecular genetic analysis was performed, and homozygous deletion of the gene encoding nephronophthisis-1 was found. Thus, the clinical diagnosis of Senior-Løken syndrome was genetically confirmed. Because her renal function was gradually worsening, she was scheduled to undergo living donor kidney transplantation. Senior-Løken syndrome, which is recognised as a very rare paediatric inherited disease characterised by nephronophthisis and eye problems, can cause adult-onset end-stage renal failure.

Hypertensive Disorders of Pregnancy and the Recent Increase in Obstetric Acute Renal Failure in Canada

2015 ◽  
Vol 35 (3) ◽  
pp. 136
Author(s):  
A. Mehrabadi ◽  
S. Liu ◽  
S. Bartholomew ◽  
J.A. Hutcheon ◽  
L.A. Magee ◽  
...  
Keyword(s):  
Renal Failure ◽  
Acute Renal Failure ◽  
Hypertensive Disorders Of Pregnancy ◽  
Hypertensive Disorders ◽  
Recent Increase

Venous Thrombosis in a Child with Burkitt Lymphoma Receiving Chemotherapy: A Clinical Case

2018 ◽  
Vol 5 (3) ◽  
pp. 197-203
Author(s):  
T. S. Lisitsa ◽  
E. V. Zhukovskaya ◽  
A. Yu. Ikonnikova ◽  
T. V. Nasedkina
Keyword(s):  
Venous Thrombosis ◽  
Burkitt Lymphoma ◽  
Clinical Case ◽  
Molecular Genetic ◽  
Venous Catheter ◽  
Molecular Genetic Analysis ◽  
Coagulation System ◽  
Gene Encoding ◽  
Oncological Diseases ◽  
Chemotherapeutic Treatment

Background. Venous thrombosis is extremely rare in children of early age; however, it occurs as a frequent and serious complication in children with hemoblastosis. The phenomenon is basically caused by the imbalance of blood coagulation system associated with the main disease, prolonged use of the central venous catheter, and polychemotherapy; hereditary predisposition contributes to the development of the complication as well. Clinical Case Description. A 12-year-old patient B. was diagnosed with Burkitt lymphoma. During chemotherapeutic treatment, the thrombosis of right internal jugular vein and right subclavian vein was registered. The thrombosis recurrence was observed at the end of specific therapy. The family history was burdened by cardiovascular and oncological diseases, consequently we performed the molecular-genetic analysis to reveal the presence of allelic variants associated with thrombophilia in the genes F2, F5, F9, F13A1, HABP2, HCF2, HRG, MTHFR, PLAT, PROC, PROS1, SERPINC1, THBD. The F5 gene Leiden mutation (c.1601G>A) in heterozygous state and intronic variant in the PROC gene encoding protein C (c.-21-37G>A) were revealed. The pharmacogenetic testing was conducted to personalize an ticoagulant and antiplatelet therapy.Conclusion. The detection of genetic risk factors for inherited thrombophilia is vital for early diagnostics of thrombotic complications in patients on chemotherapy. Key 

Molecular genetic analysis of the nagH gene encoding a hyaluronidase of Clostridium perfringens

1994 ◽  
Vol 243 (2) ◽  
pp. 215-224 ◽  
Author(s):  
Bruno Canard ◽  
Thierry Garnier ◽  
Brigitte Saint-Joanis ◽  
Stewart T. Cole
Keyword(s):  
Genetic Analysis ◽  
Clostridium Perfringens ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Gene Encoding

scholarly journals Genotyping Fanconi anemia patients from Serbia reveals three novel FANCD2 variants

Genetika ◽  
2017 ◽  
Vol 49 (2) ◽  
pp. 559-572
Author(s):  
Jelena Filipovic-Trickovic ◽  
Vesna Mandusic ◽  
Ivana Joksic ◽  
Dragana Vujic ◽  
Ana Valenta-Sobot ◽  
...  
Keyword(s):  
Fanconi Anemia ◽  
In Silico ◽  
Wide Spectrum ◽  
Molecular Genetic ◽  
In Silico Analysis ◽  
Molecular Genetic Analysis ◽  
Sequence Variants ◽  
Inherited Disease ◽  
Progressive Pancytopenia ◽  
Silico Analysis

Fanconi anemia is rare inherited disease characterized by wide spectrum of congenital anomalies, progressive pancytopenia, and predisposition to hematological malignancies and solid tumors. Molecular genetic analysis of mutations in FANC genes is of a great importance for diagnosis confirmation, prenatal and carrier testing, as well as for prediction of chemotherapy outcome and disease complications. In this study we performed screening of frequently affected regions of FANCD2 gene for sequence variants in six unrelated FA-D2 patients in Serbia. This is the first molecular analysis of FANCD2 gene in Serbian FA-D2 patients. A total of 10 sequence variants were detected, one in homozygous, and nine in heterozygous state. Two variants were found within exons, and eight within introns, in deep intronic regions. In-silico analysis showed that among all detected variants one exon variant and three intron variants might have impact on splicing mechanism. Heterozygous variants found in intron 3, c.206-246delG; exon 26, c.2396 C>A and intron 28, c.2715+573 C>T were not previously reported. In-silico analysis revealed that among them, two (intron 3, c.206-246 delG and exon 26, c.2396 C>A) could be novel disease-causing mutations. Many variants were found in more than one patient, including those unreported, indicating their possible ethnic association. Great number of variants in some patients suggests their non-random emergence in Fanconi anemia pathway.

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