Investigation of Association between Kidney failures and Hereditary Spherocytosis in Iranian families

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Shahab Movahed Zahra; MAJD AHMAD; Siasi Torbati elham; ZEINALI SIROUS

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Journal: Pathobiology Research Year:2021 | Volume:23 | Issue:5 Page(s): 47-56

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Title

Investigation of Association between Kidney failures and Hereditary Spherocytosis in Iranian families

Author(s)

Shahab Movahed Zahra | MAJD AHMAD | Siasi Torbati elham | ZEINALI SIROUS | Issue Writer Certificate

Keywords

incomplete distal renal tubular acidosisQ1

hereditary spherocytosisQ1

Anion Exchange Protein 1Q1

Whole Exome SequencingQ1

Abstract

Aims: hereditary spherocytosis is caused by defects in red blood cell (RBC) membrane proteins. Anemia is a common complication of chronic kidney disease. In genetically, Anion Exchange Protein 1 (AE1) is one of the most abundant proteins in the red blood cell membrane and renal tubular a-intercalated cells. Mutations of AE1 gene can cause hereditary spherocytosis (HS) and distal renal tubular acidosis (dRTA) (kind of serious type of kidney disease). In this paper, Association between Kidney failures in hereditary spherocytosis patients has been investigated. Materials & Methods: Five hereditary spherocytosis Patients with symptoms relative to kidney problems which investigated in from the Ali-Asghar Children’ s Hospital. A patient suspected dRTA was employed for genetic analyses with whole-exome sequencing and Sanger sequencing methods. Data were analyzed using the Wilcoxon signed-rank test in SPSS Statistic Findings: Clinical manifestations and laboratory findings of 5 study patients were observed in growth retardation, Splenomegaly and significant urine infection. Also, one of 5 patients showed severe failure to thrive, Short stature, repeated urinary infection, and weakness. We have found a Combination of a novel homozygote missense variant (c. 2494C>T (p. Arg832Cys) in the anion exchanger 1 and a heterozygote missense variant in SPTA1 gene (c. 466C>T (p. Arg156Trp). Conclusions: These results confirm the importance of Kidney failure with hereditary spherocytosis diseases. The combination of two different mutations in a patient (as incomplete distal renal tubular acidosis (idRTA) manifested the first time in Iranian families.

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APA: Copy

Shahab Movahed, Zahra, MAJD, AHMAD, Siasi Torbati, elham, & ZEINALI, SIROUS. (2021). Investigation of Association between Kidney failures and Hereditary Spherocytosis in Iranian families. PATHOBIOLOGY RESEARCH (MODARES JOURNAL OF MEDICAL SCIENCES), 23(5 ), 47-56. SID. https://sid.ir/paper/411616/en

Vancouver: Copy

Shahab Movahed Zahra, MAJD AHMAD, Siasi Torbati elham, ZEINALI SIROUS. Investigation of Association between Kidney failures and Hereditary Spherocytosis in Iranian families. PATHOBIOLOGY RESEARCH (MODARES JOURNAL OF MEDICAL SCIENCES)[Internet]. 2021;23(5 ):47-56. Available from: https://sid.ir/paper/411616/en

IEEE: Copy

Zahra Shahab Movahed, AHMAD MAJD, elham Siasi Torbati, and SIROUS ZEINALI, “Investigation of Association between Kidney failures and Hereditary Spherocytosis in Iranian families,” PATHOBIOLOGY RESEARCH (MODARES JOURNAL OF MEDICAL SCIENCES), vol. 23, no. 5 , pp. 47–56, 2021, [Online]. Available: https://sid.ir/paper/411616/en

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