Volume 23, Issue 5 (2021)
mjms 2021, 23(5): 56-74 |
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shahab movahed Z, Majd A, Siasi Torbat E, zeinali S. Kidney failure in Iranian Families with Hereditary Spherocytosis. mjms 2021; 23 (5) :56-74
URL: http://mjms.modares.ac.ir/article-30-46378-en.html
URL: http://mjms.modares.ac.ir/article-30-46378-en.html
1- Department of Cellular and Molecular Biology, Faculty of Science, North Tehran Branch of Islamic Azad University, Tehran, Iran
2- Department of Genetics, Faculty of Science, North Tehran Branch of Islamic Azad University, Tehran, Iran
3- Department of Medical Molecular, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, IranKosar Human Genetic Research Center, Tehran, Iran ,zeinali@kawsar.ir
2- Department of Genetics, Faculty of Science, North Tehran Branch of Islamic Azad University, Tehran, Iran
3- Department of Medical Molecular, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, IranKosar Human Genetic Research Center, Tehran, Iran ,
Abstract: (2202 Views)
Aims: Anion Exchange Protein 1 (AE1), also known as band 3, is one of the most abundant proteins in the red blood cell membrane and renal tubular a-intercalated cells with two different isoforms (eAE1 and kAE1, respectively). Mutations of the anion exchanger 1 (AE1) gene can cause hereditary spherocytosis (HS) and distal renal tubular acidosis (dRTA).
Materials & Methods: In the present Iranian families, 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 mutations in the Patient 3 manifested as incomplete distal renal tubular acidosis (dRTA) in the affected patient. We reported for the first time, clinical and genetic characteristics of incomplete distal renal tubular acidosis disease in the affected patient.
Materials & Methods: In the present Iranian families, 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 mutations in the Patient 3 manifested as incomplete distal renal tubular acidosis (dRTA) in the affected patient. We reported for the first time, clinical and genetic characteristics of incomplete distal renal tubular acidosis disease in the affected patient.
Keywords: incomplete distal renal tubular acidosis, hereditary spherocytosis, Anion Exchange Protein 1, Whole Exome Sequencing
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