Displaying publications 1 - 20 of 49 in total

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  1. Shmukler BE, Kedar PS, Warang P, Desai M, Madkaikar M, Ghosh K, et al.
    Am J Hematol, 2010 Oct;85(10):824-8.
    PMID: 20799361 DOI: 10.1002/ajh.21836
    Familial distal renal tubular acidosis (dRTA) can be caused by mutations in the Cl2/HCO32 exchanger of the renal Type A intercalated cell, kidney AE1/SLC4A1. dRTA-associated AE1 mutations have been reported in families from North America, Europe, Thailand, Malaysia, Papua-New Guinea, Taiwan, and the Philippines, but not India. The dRTA mutation AE1 A858D has been detected only in the context of compound heterozygosity. We report here two unrelated Indian patients with combined hemolytic anemia and dRTA who share homozygous A858D mutations of the AE1/SLC4A1 gene. The mutation creates a novel restriction site that is validated for diagnostic screening.
    Matched MeSH terms: Acidosis, Renal Tubular/complications; Acidosis, Renal Tubular/genetics*
  2. Sharda P, Haspani S, Idris Z
    Asian J Neurosurg, 2014 Oct-Dec;9(4):203-12.
    PMID: 25685217 DOI: 10.4103/1793-5482.146605
    OBJECTIVE: The objective of this prospective cohort study was to analyse the characteristics of severe Traumatic Brain Injury (TBI) in a regional trauma centre Hospital Kuala Lumpur (HKL) along with its impact of various prognostic factors post Decompressive Craniectomy (DC).
    MATERIALS AND METHODS: Duration of the study was of 13 months in HKL. 110 consecutive patients undergoing DC and remained in our centre were recruited. They were then analysed categorically with standard analytical software.
    RESULTS: Age group have highest range between 12-30 category with male preponderance. Common mechanism of injury was motor vehicle accident involving motorcyclist. Univariate analysis showed statistically significant in referral area (P = 0.006). In clinical evaluation statistically significant was the motor score (P = 0.040), pupillary state (P = 0.010), blood pressure stability (P = 0.013) and evidence of Diabetes Insipidus (P < 0.001). In biochemical status the significant statistics included evidence of coagulopathy (P < 0.001), evidence of acidosis (P = 0.003) and evidence of hypoxia (P = 0.030). In Radiological sector, significant univariate analysis proved in location of the subdural clot (P < 0.010), location of the contusion (P = 0.045), site of existence of both type of clots (P = 0.031) and the evidence of edema (P = 0.041). The timing of injury was noted to be significant as well (P = 0.061). In the post operative care was, there were significance in the overall stability in intensive care (P < 0.001), the stability of blood pressure, cerebral perfusion pressure, pulse rates and oxygen saturation (all P < 0.001)seen individually, post operative ICP monitoring in the immediate (P = 0.002), within 24 hours (P < 0.001) and within 24-48 hours (P < 0.001) period, along with post operative pupillary size (P < 0.001) and motor score (P < 0.001). Post operatively, radiologically significant statistics included evidence of midline shift post operatively in the CT scan (P < 0.001). Multivariate logistic regression with stepwise likelihood ratio (LR) method concluded that hypoxia post operatively (P = 0.152), the unmaintained Cerebral Perfusion Pressure (CPP) (P = 0.007) and unstable blood pressure (BP) (P = <0.001). Poor outcome noted 10.2 times higher in post operative hypoxia [OR10.184; 95% CI: 0.424, 244.495]. Odds of having poor outcome if CPP unmaintained was 13.8 times higher [OR: 13.754; CI: 2.050, 92.301]. Highest predictor of poor outcome was the unstable BP, 32 times higher [OR 31.600; CI: 4.530, 220440].
    CONCLUSION: Our series represent both urban and rural population, noted to be the largest series in severe TBI in this region. Severe head injury accounts for significant proportion of neurosurgical admissions, resources with its impact on socio-economic concerns to a growing population like Malaysia. This study concludes that the predictors of outcome in severe TBI post DC were postoperative hypoxia, unmaintained cerebral perfusion pressure and unstable blood pressure as independent predictors of poor outcome. Key words: Decompressive craniectomy, prognostication of decompressive craniectomy, prognostication of severe head injury, prognostication of traumatic brain injury, severe head injury, severe traumatic brain injury, traumatic brain injury.
    KEYWORDS: Decompressive craniectomy; prognostication of decompressive craniectomy; prognostication of severe head injury; prognostication of traumatic brain injury; severe head injury; severe traumatic brain injury; traumatic brain injury
    Matched MeSH terms: Acidosis
  3. Johnson RO, Johnson BH, Raman A, Lee EL, Lam KL
    Aust Paediatr J, 1979 Jun;15(2):101-6.
    PMID: 485988
    Matched MeSH terms: Acidosis/etiology*; Acidosis/metabolism
  4. Shariffuddin II, Rai V, Chan YK, Muniandy RK
    BMJ Case Rep, 2014;2014.
    PMID: 24862427 DOI: 10.1136/bcr-2014-205135
    Care of an acutely ill parturient is particularly difficult when we have to balance the needs of both mother and the fetus to survive. The literature suggests there should be emphasis on stabilising the mother's condition. In dealing with metabolic acidosis, however, we believe delivering the baby early might not only relieve the threat of the acidosis on the mother, it may be the only way to deliver a live baby. We report two parturient women with severe metabolic acidosis which was considerably reduced very soon after the delivery and how our timely delivery resulted in the birth of two neurologically intact babies.
    Matched MeSH terms: Acidosis/etiology; Acidosis/therapy; Diabetic Ketoacidosis/therapy*
  5. Kabir S, Hossain AT, Shimmi SC, Jie CS
    BMJ Case Rep, 2020 Dec 28;13(12).
    PMID: 33372011 DOI: 10.1136/bcr-2020-236197
    A 31-year-old woman, with a body mass index of 70.31 kg/m2, presented with progressive worsening of dyspnoea for 3 days. She had multiple comorbidities, including obesity hypoventilation syndrome. The patient developed type II respiratory failure with respiratory acidosis along with multiorgan failure. She was intubated and put on a mechanical ventilator and treated with intravenous diuretics, subcutaneous low-molecular-weight heparin and other supportive measures. Later, she was on noninvasive, continuous positive airway pressure ventilation overnight. She was prescribed a very-low-calorie diet along with physiotherapy and exercise. The patient underwent bariatric surgery 2 months after resolution of acute illness. Ten months after surgery, her body weight reduced from 180 kg to 121 kg, and her general condition improved. Successful management before and after surgical intervention depends on multidisciplinary teamwork, which includes the dietician, physiotherapist, endocrinologist, pulmonologist, nursing care and other supportive care.
    Matched MeSH terms: Acidosis, Respiratory/complications
  6. Huan, Nai Chien, Wan Awatif Wan Mohd Zohdi
    MyJurnal
    High anion gap metabolic acidosis (HAGMA) is a hallmark of Diabetic Ketoacidosis (DKA). Occasionally, a Normal Anion Gap Metabolic Acidosis (NAGMA) can be seen, especially during the treatment phase. In this case report, a 55-year-old lady with diabetes mellitus who presented with a 2-day history of fever, lethargy and multiple episodes of vomiting and diarrhoea. Initial laboratory investigations revealed: capillary blood glucose as 27 mmol/L, urine ketone as 3+, blood ketone as 3.5 mmol/L, serum bicarbonate as 14 mmol/L, and serum chloride as 95 mmol/L. She was treated with intravenous normal saline fluid resuscitation and constant rate insulin infusion which was fortunately accompanied by stabilization of blood glucose and normalization of blood ketone to 0.2 mmol/L. However, despite normalization of her anion gap (25 to 14), she remained unwell with acidotic breathing due to refractory hyperchloraemic NAGMA with bicarbonate at 11 mol/L and chloride of 112 mmol/L. It was then decided to administer 100 mL of 8.4% Sodium Bicarbonate solution. The next day, she was no longer tachypneic as her bicarbonate and carbon dioxide improved to 21 mmol/L and 32 mmHg respectively. The presence of NAGMA in DKA should prompt clinicians to conduct a thorough search for possible underlying causes, such as gastrointestinal fluid loss, sepsis and chloride load from aggressive fluid resuscitation with normal saline. Sodium bicarbonate should only be considered in intractable cases to correct a NAGMA and not routinely used in the treatment of DKA.
    Matched MeSH terms: Acidosis; Diabetic Ketoacidosis
  7. Low, Qin Jian, Chew, Soo Foong
    MyJurnal
    Both metformin and gliclazide have been used extensively in the management of type II diabetes mellitus. Metformin and gliclazide overdose can lead to severe hypoglycaemia refractory to intravenous (IV) dextrose rescue therapy. A 21-year-old man complained of vomiting and felt dizzy after four hours of taking 70 tablets of Metformin 500 mg and 40 tablets of Gliclazide 80 mg. He had major depressive disorder and wanted to commit suicide. He was given IV Dextrose 50% 50 cc immediately. Octreotide had been used successfully to reverse the refractory hypoglycaemia caused by gliclazide overdose. Unfortunately, he developed severe lactic acidosis with acute kidney injury. Dialysis had been done by continuous venovenous haemodiafiltrationa and intravenous sodium bicarbonate 8.4% infusion was given. However, the patient succumbed due to the severe lactic acidosis and kidney failure despite of urgent dialysis. Octreotide infusion helps in preventing refractory hypoglycaemia secondary to sulfonylurea overdose by inhibit calcium-mediated insulin release. Metformin overdose causes severe lactic acidosis due to conversion of glucose to lactate. Sodium bicarbonate therapy in metformin induced lactic acidosis is also controversial. Though sulfonylurea and metformin are the most commonly-prescribed anti-hypoglycaemic agents, thus during prescribing everyone has to be careful about the overdoses and side effects of these drugs.
    Matched MeSH terms: Acidosis, Lactic
  8. Afroze B, Amjad N, Ibrahim SH, Humayun KN, Yakob Y
    Brain Dev, 2014 Nov;36(10):924-7.
    PMID: 24508408 DOI: 10.1016/j.braindev.2013.12.009
    Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) are established subgroups of mitochondrial encephalomyopathy. m.3243A>G a common point mutation is detected in tRNA in majority of patients with MELAS phenotype whereas m.8344A>G point mutation in tRNA is observed, in MERRF phenotype. Adrenal insufficiency has not been reported in mitochondrial disease, except in Kearns-Sayre Syndrome (KSS), which is a mitochondrial deletion syndrome. We report an unusual presentation in a five year old boy who presented with clinical phenotype of MELAS and was found to have m.8344A>G mutation in tRNA. Addison disease was identified due to hyperpigmentation of lips and gums present from early childhood. This is the first report describing adrenal insufficiency in a child with MELAS phenotype.
    Matched MeSH terms: Acidosis, Lactic
  9. Hannah HB
    Br J Anaesth, 1971 Oct;43(10):991-3.
    PMID: 5115036
    Matched MeSH terms: Acidosis
  10. Mustafar R, Kamaruzaman L, Chien BH, Yahaya A, Mohd Nasir N, Mohd R, et al.
    Case Rep Med, 2018;2018:8425985.
    PMID: 30186328 DOI: 10.1155/2018/8425985
    We reported a case of primary renal lymphoma (PRL) presented with non-oliguric acute kidney injury and bilateral kidney infiltrates in an individual with human immunodeficiency virus (HIV) disease. Acute kidney injury secondary to lymphoma infiltrates is very rare (less than 1% of hematological malignancy). A 37-year-old gentleman with underlying human immunodeficiency virus (HIV) disease was on combined antiretroviral therapy since diagnosis. He presented to our center with uremic symptoms and gross hematuria. Clinically, bilateral kidneys massively enlarged and were ballotable. Blood investigations showed hemoglobin of 3.7 g/L, urea of 65.6 mmol/L, and serum creatinine of 1630 µmol/L with hyperkalemia and metabolic acidosis. An urgent hemodialysis was initiated, and he was dependent on regular hemodialysis subsequently. Computed tomography renal scan showed diffuse nonenhancing hypodense lesion in both renal parenchyma. Diagnosis of diffuse large B cell lymphoma with germinal center type, CD20 positive, and proliferative index 95% was confirmed via renal biopsy, and there was no bone marrow infiltrates. Unfortunately, the patient succumbs prior to initiation of chemotherapy.
    Matched MeSH terms: Acidosis
  11. Usman A, Shaikh MF, Dujaili JA, Mustafa N, Gan SH
    Diabetes Metab Syndr, 2021 Mar 05;15(2):573-580.
    PMID: 33706189 DOI: 10.1016/j.dsx.2021.03.001
    BACKGROUND AND AIMS: Diabetic ketoacidosis (DKA) treatment guidelines recommend to initiate potassium-replacement when serum potassium (SK) drops within normal range, and to withhold insulin if SK is below normal. Despite strict recommendations, hypokalemia is frequently observed in DKA.

    METHODS: Scientific literature was thoroughly searched to find 1) DKA treatment guidelines, 2) studies reporting hypokalemia in DKA, 3) and literature elaborating mechanisms involved in hypokalemia.

    RESULTS: Acidosis affects SK and its regulators including insulin, catecholamines and aldosterone. Current conceptual framework is an argument to gauge the degree of hypokalemia before it strikes DKA patients utilizing SK level after adjusting it with pH. Suggested approach will reduce hypokalemia risk and its associated complications. The nomogram calculates pH-adjusted potassium and expected potassium loss. It also ranks hypokalemia associated risk, and proposes the potassium-replacement rate over given time period. The differences between current DKA treatment guidelines and proposed strategy are also discussed. Moreover, reasons and risk of hyperkalemia due to early initiation of potassium replacement and remedial actions are debated.

    CONCLUSION: In light of proposed strategy, utilizing the nomogram ensures reduced incidence of hypokalemia in DKA resulting in improved clinical and patient outcomes. Pharmacoeconomic benefits can also be expected when avoiding hypokalemia ensures early discharge.

    Matched MeSH terms: Acidosis; Diabetic Ketoacidosis
  12. Usman A, Makmor Bakry M, Mustafa N, Rehman IU, Bukhsh A, Lee SWH, et al.
    Diabetes Metab Syndr Obes, 2019;12:1323-1338.
    PMID: 31496770 DOI: 10.2147/DMSO.S208492
    Background: During the progress and resolution of a diabetic ketoacidosis (DKA) episode, potassium levels are significantly affected by the extent of acidosis. However, none of the current guidelines take into account acidosis during resuscitation of potassium level in DKA management, which may increase the risk of cardiovascular adverse events.

    Objective: To assess literature regarding the adjustment of potassium level using pH to calculate pH-adjusted corrected potassium level, and to observe the relationship of cardiovascular outcomes with reported potassium level and pH-adjusted corrected potassium in DKA.

    Methodology: Seven databases were searched from inception to January 2018 for studies which had reported people with diabetes developing diabetic ketoacidosis, in relation to prevalence or incidence, fluid resuscitation or potassium supplementation treatment, treatment or cardiovascular outcomes, and experimentation with DKA management or insulin. Quality of studies was evaluated using Cochrane Risk of Bias and Newcastle Ottawa Scale.

    Results: Forty-seven studies were included in qualitative synthesis out of a total of 10,292 retrieved studies. Forty-one studies discussed the potassium level and blood pH at the time of admission, ten studies discussed cardiovascular outcomes, and only four studies concurrently discussed potassium level, pH, and cardiovascular outcomes. Only two studies were graded as good on the Newcastle Ottawa Scale. The reported potassium level was well within normal range (5.8 mmol/L), whereas pH rendered patients to be moderately acidotic (7.13). Surprisingly, none of the included studies mentioned pH-adjusted corrected potassium level and, hence, this was calculated later. Although mean corrected potassium was within the normal range (3.56 mmol/L), 13 studies had corrected potassium below 3.5 mmol/L and five had it below 3.0 mmol/L. Nevertheless, with the exception of one study, none discussed cardiovascular outcomes in the context of potassium or pH-adjusted potassium level.

    Conclusion: The evidence surrounding cardiovascular outcomes during DKA episodes in light of a pH-adjusted corrected potassium level is scarce. A prospective observational, or preferably, an experimental study in this regard will ensure we can modify and enhance safety of existing DKA treatment protocols.
    Matched MeSH terms: Acidosis; Diabetic Ketoacidosis
  13. Yeo JL, Tan BT, Achike FI
    Eur J Pharmacol, 2010 Sep 10;642(1-3):99-106.
    PMID: 20553918 DOI: 10.1016/j.ejphar.2010.05.040
    Acidosis modulates physiologic and pathophysiologic processes but the mechanism of acidotic vasodilatation remains unclear. We therefore explored this in aortic rings from normal and streptozotocin-induced diabetic Sprague-Dawley rats. Phenylephrine (PE)-induced contraction in endothelium-intact and -denuded rings were recorded under normal and acidotic pH with or without drug probes. Acidosis exerted a relaxant effect in endothelium-intact and -denuded euglycaemic and diabetic tissues. l-NAME or methylene blue partially inhibited acidotic relaxation in these endothelium-intact but not the -denuded tissues, with greater inhibition in the diabetic tissues, indicating that acidosis induces relaxation by endothelium-dependent and -independent mechanisms, the former being EDNO-cGMP mediated. Indomethacin had no effect on the tissues, indicating that cyclooxygenase products are neither involved in acidosis-induced vasodilatation nor in the modulation of phenylephrine-contraction. In euglycaemic tissues under normal pH, no K(+) channel blocker altered phenylephrine-contraction, but all (except glibenclamide) enhanced diabetic tissue contraction, indicating that normally, these channels (K(ir), K(V), BK(Ca), K(ATP)) do not modulate phenylephrine-contraction, but they (except K(ATP)) are expressed in diabetes where they attenuate phenylephine-induced contraction and modulate acidosis. Only the K(ir) channel modulates acidotic relaxation in euglycaemic tissues. Only tetraethylammonium and iberiotoxin enhanced phenylephrine-induced contraction in endothelium-denuded diabetic tissues indicating that BK(Ca) attenuates phenylephrine-contraction and that acidotic relaxation in this condition is modulated by a tetraethylammonium-sensitive mechanism. In conclusion, acidosis causes vasodilatation in normal and diabetic tissues via endothelium-dependent and -independent mechanisms differentially modulated by a combination of a NO-cGMP process and K(+) channels, some of which are dormant in the normal state but activated in diabetes mellitus.
    Matched MeSH terms: Acidosis/physiopathology*
  14. Isa WY, Daud KM
    Intern. Med., 2011;50(16):1765-8.
    PMID: 21841342
    We report a case of renal tubular acidosis (RTA) in a patient with HIV infection and AIDS. A 33-year-old HIV-positive man with Hepatitis C and tuberculous lymphadenitis was admitted due to deep venous thrombosis and generalized muscle weakness. He had never received anti-retroviral medication. The blood gases and serum electrolytes showed hyperchloremic normal anion gap metabolic acidosis with severe hypokalemia and alkaline urine. Diagnosis of distal RTA was made. His renal function and serum globulin level remained within normal range throughout his illness. Clinicians should be alert to renal tubular disorders in HIV/AIDS patients even in the absence of anti-retroviral therapy or hypergammaglobulinemic state.
    Matched MeSH terms: Acidosis, Renal Tubular/complications*; Acidosis, Renal Tubular/diagnosis*
  15. Faridah Hanim Zam Zam, Nazimah Idris, Tham, Seng Woh
    MyJurnal
    Background: Fetal surveillance in labour is performed mostly to identify fetuses at risk of hypoxia in order to reduce neonatal morbidity and mortality by initiating timely intervention. While normal and abnormal fetal heart rate (FHR) patterns have been well recognised and characterized for the first stage of labour, FHR patterns during the second stage of labour commonly showed some forms of abnormalities leading to problems in interpretation, particularly in predicting fetal hypoxia and acidosis. This study aims to identify patterns of FHR tracing during the second stage of labour associated with neonatal acidosis. Methods: A prospective cross sectional study was conducted in the Labour Ward of a state referral hospital. The study population were patients with low-risk
    singleton pregnancies between 37 to 42 weeks gestation who had normal cardiotocograph (CTG) tracing in the first stage of labour. CTG was recorded during the second stage of labour and neonatal umbilical cord blood was obtained for acid-base analysis immediately after birth prior to the delivery of placenta. FHR patterns were grouped according to modified Melchior and Barnard’s
    classification and matched with neonatal acid-base status. Patients with normal FHR pattern in the second stage acted as control. Results: A total of 111 matched pairs were analysed. Ninety nine (89.2%) second stage FHR tracings showed abnormal features when compared to control. There were significantly more neonatal acidosis and hypercapnia in type 1b, type 2a, type 2b and type 3 CTG patterns compared to control, in increasing order of severity. In addition, types 2b and 3 showed significant difference in the base excess. Conclusion: Certain second stage fetal heart rate
    patterns were found to be associated with neonatal acidosis.
    Matched MeSH terms: Acidosis
  16. Hashim H, Sahari NS, Sazlly Lim SM, Hoo FK
    Iran Red Crescent Med J, 2015 Oct;17(10):e19546.
    PMID: 26568856 DOI: 10.5812/ircmj.19546
    INTRODUCTION: The introduction of highly active antiretroviral therapy (HAART), in 1996, has resulted in marked reductions in the rate of illness and death, due to HIV infection. The HAART has transformed HIV infection into a manageable chronic disease. However, although many regimens lower plasma viral load, to below the limit of detection, in most patients, maintaining viral load suppression remains challenging, because of adverse effects and toxicity in the long term, which can lead to non-adherence, virologic failure and drug resistance. Although rare, lactic acidosis often develops fatal complications, as reported in several human immunodeficiency virus infected patients treated with nucleoside reverse transcriptase inhibitors (NRTIs). The purpose of this paper is to report a case of tenofovir induced lactic acidosis and review the literature.

    CASE PRESENTATION: A 52-year-old Malay gentleman, with hepatitis C virus and HIV infection was admitted to the intensive care unit for severe lactic acidosis, with concurrent Escherichia coli bacteremia with multiorgan dysfunction. The patient was started on highly active antiretroviral therapy, which included tenofovir, 5 weeks before presentation. Antimicrobial therapy, continuous veno-venous hemofiltration, and other supportive treatments were instituted. However, the patient eventually succumbed to his illness.

    CONCLUSIONS: It is essential for clinicians to be able to recognize the signs and symptoms of lactic acidosis in NRTIs treated HIV patients, as an early diagnosis is important to institute treatment.

    Matched MeSH terms: Acidosis, Lactic
  17. Yeoh C, Teo A, Azhar AMN, Suann ST, Thum Y, Wong KD, et al.
    J Acute Med, 2019 Sep 01;9(3):128-144.
    PMID: 32995241 DOI: 10.6705/j.jacme.201909_9(3).0005
    Background: Balanced fluids are preferred in initial resuscitation of septic patients based on several recent studies. The Stewart's concept on acid-base balance predicts that high strong ion difference (SID) fluid thus will increase the pH level. To date, the impact of high SID fluid in septic patient with metabolic acidosis remains uncertain. We conducted single center, randomized, double-blind trial to compare the effect of high SID fluid vs. Hartmann's solution on acid-base status in selected sepsis patients in the Emergency Department.

    Methods: Septic patient with hyperlactatemia and metabolic acidosis were randomized to receive either high SID fl uid or Hartmann's solution during initial fl uid resuscitation. The primary outcome measures the pH and bicarbonate levels difference pre- and post- resuscitation.

    Results: One hundred and sixty-two patients underwent randomization, 81 were assigned each to receive high SID fluid or Hartmann's solution. Both groups had similar baseline characteristics. High SID group received 23.5 mL/kg and the Hartmann's group received 22.7 mL/kg (p = 0.360). High SID fluid increased the mean (± SD) pH by 0.107 (± 0.09) vs. Hartmann's solution by 0.014 (± 0.12), p ≤ 0.001. Mean bicarbonate level increased signifi cantly in high SID group compared to Hartmann's (4.30 ± 3.76 vs. 1.25 ± 3.33, p ≤ 0.001). High SID group had higher post resuscitation lactate clearance than Hartmann's group (25.4 ± 28.3% vs. 12.0 ± 34.1%, p = 0.009). Shorter hospital stay was observed in highSID group 8.04 ± 5.96 days vs. Hartmann's group 12.18 ± 12.41 days (p = 0.048). Both groups showed no difference in incidence of pulmonary oedema, acute kidney injury and mortality.

    Conclusions: Initial resuscitation using high SID fluid in selected septic patient improves pH and bicarbonate levels. The high SID group had better post resuscitation lactate clearance and shorter hospital stay.

    Matched MeSH terms: Acidosis
  18. Yenchitsomanus PT, Sawasdee N, Paemanee A, Keskanokwong T, Vasuvattakul S, Bejrachandra S, et al.
    J Hum Genet, 2003;48(9):451-456.
    PMID: 12938018 DOI: 10.1007/s10038-003-0059-6
    We have previously demonstrated that compound heterozygous (SAO/G701D) and homozygous (G701D/G701D) mutations of the anion exchanger 1 (AE1) gene, encoding erythroid and kidney AE1 proteins, cause autosomal recessive distal renal tubular acidosis (AR dRTA) in Thai patients. It is thus of interest to examine the prevalence of these mutations in the Thai population. The SAO and G701D mutations were examined in 844 individuals from north, northeast, central, and south Thailand. Other reported mutations including R602H, DeltaV850, and A858D were also examined in some groups of subjects. The SAO mutation was common in the southern Thai population; its heterozygote frequency was 7/206 and estimated allele frequency 1.70%. However, this mutation was not observed in populations of three other regions of Thailand. In contrast, the G701D mutation was not found in the southern population but was observed in the northern, northeastern, and central populations, with heterozygote frequencies of 1/216, 3/205, and 1/217, and estimated allele frequencies of 0.23%, 0.73%, and 0.23%, respectively. The higher allele frequency of the G701D mutation in the northeastern Thai population corresponds to our previous finding that all Thai patients with AR dRTA attributable to homozygous G701D mutation originate from this population. This suggests that the G701D allele that is observed in this region might arise in northeastern Thailand. The presence of patients with compound heterozygous SAO/G701D in southern Thailand and Malaysia and their apparently absence in northeastern Thailand indicate that the G701D allele may have migrated to the southern peninsular region where SAO is common, resulting in pathogenic allelic interaction.
    Matched MeSH terms: Acidosis, Renal Tubular/genetics*; Acidosis, Renal Tubular/epidemiology
  19. Yusoff NM, Van Rostenberghe H, Shirakawa T, Nishiyama K, Amin N, Darus Z, et al.
    J Hum Genet, 2003;48(12):650-653.
    PMID: 14618420 DOI: 10.1007/s10038-003-0095-2
    Southeast Asian ovalocytosis (SAO) is a red blood cell abnormality common in malaria-endemic regions and caused by a 27 nt deletion of the band 3 protein gene. Since band 3 protein, also known as anion exchanger 1, is expressed in renal distal tubules, the incidence of SAO was examined in distal renal tubular acidosis (dRTA) in Malays in Kelantan, Malaysia. Twenty-two patients with dRTA and 50 healthy volunteers were examined for complication of SAO by both morphological and genetic analyses. SAO was identified in 18 of the 22 dRTA patients (81.8%), but only two of the 50 controls (4%). The incidence of SAO was significantly high in those with dRTA (p<0.001), indicating a dysfunctional role for band 3 protein/anion exchanger 1 in the development of dRTA.
    Matched MeSH terms: Acidosis, Renal Tubular/complications; Acidosis, Renal Tubular/genetics*
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