This patient presented to an emergency room in Illinois, 2010
Dr. Pavlos Msaouel, MD, PhD is a leading physician-scientist researching this space. See his publications in references below.
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Individuals with sickle cell disease are homozygotes of the sickle gene. This is a genetic mutation that developed on the beta chain of red blood cell hemoglobin, that is protective of malaria, endemic in equatorial Africa, where the mutation is currently known to have originated from. It follows Mendelian inheritance. Sickling will cause pain, anemia, chronic tiredness, and kidney damage, among others.
Sickle cell trait refers to heterozygosity. In trait, the RBC's don't typically sickle in the body, but they will in places that are particularly hypertonic and hypoxic. The foremost example of that type of environment, is the kidney medulla. Hypertonicity and hypoxia are favored in this tissue because of its function in water reabsorption in the Loop of Henle. The descending loop into the inner medulla is permeable to water only. As more water flows out into the medulla, it becomes dilute. In the ascending limb of the Loop of Henle, ions can be pumped out of the filtrate and in to the medulla, maintaining hypertonicity of the tissue, allowing more water to be reabsorbed.
In the vasa recta, the RBC's will sickle into the medulla, causing vaso-occlusion. Meaning the mechanisms of maintaining medulla hypertonicity will be compromised, turning hypoxia to become anoxia (pO2 = 0). This damage will force all filtrate to become urine, so water loss will ensue.
In extreme exercise, this will cause hemoconcentration, hypoxemia, worsening lactic acidosis, and increased sickling.
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"Ultrasonography of the Kidney" Diagnostics 6 (1): 2.
RMC CT Case Rep Oncol Med. 2014;2014:615895.
CT courtesy A.Prof Frank Gaillard, Radiopaedia.org, rID: 10650
References:
[0] Msaouel, P, et. al. A Model Linking Sickle Cell Hemoglobinopathies and SMARCB1 Loss in Renal Medullary Carcinoma. Clin Cancer Res. 2018 May 1;24(9):2044-2049. PMID 29440190
[1] Msaouel, P, et. al. Updated Recommendations on the Diagnosis, Management, and Clinical Trial Eligibility Criteria for Patients With Renal Medullary Carcinoma. Clin Genitourin Cancer. 2019 Feb;17(1):1-6.
[2] Clinical manifestations and diagnosis of rhabdomyolysis. UpToDate.
[3] Clinical features and diagnosis of heme pigment-induced acute kidney injury. UpToDate.
[4] Errors in ultrasonographic measurements of the kidney. Nephrol Dial Transplant 2000;15:549-50.
[5] The variant renal and suprarenal blood supply with data on the interior phrenic, ureteral and gonadal arteries: a statistical analysis based on 185 dissections and a review of the literature. J Int Coll Surg 1958;29:41-76.
[6] Bird, Stewart, Lightfoot. Transport Phenomena. 2007.
[7] G Hagen, Ann Phys Chem, 46, 423-442. (1839).
[8] E Hagenbach, Pogg. Annalen der Physik u. Chemie, 108, 385-426 (1860).
[9] Lancet. 2010;376(9757):2018. PMID: 21131035
[10] Mortality and morbidity in Jamaican adults with sickle-cell trait and with normal haemoglobin followed up for twelve years. Lancet. 1976;2(7989):784. PMID: 61453
[11] Age and prevalence of sickle-cell trait in a large ambulatory population. Genet Epidemiol. 1987;4(4):307. PMID: 3666437
[12] Vander’s Renal Physiology, 9e
[13] Hypoxia of the renal medulla--its implications for disease. N Engl J Med 1995;332:647-55.
[14] Renal medullary circulation: hormonal control. Kidney Int. 1990 Jan;37(1):1-13. PMID 2137185
[15] Compartment syndrome and fatal rhabdomyolysis in sickle cell trait.
WMJ. 2005 Aug;104(6):67-71. PMID 16218320
[16] Acute compartment syndrome of the extremities. UpToDate.
[17] Myoglobinuria, rhabdomyolysis and marathon running. Q J Med. 1978;47(188):463. PMID 751088
[18] DNA damage and osmotic regulation in the kidney. Am J Physiol Renal Physiol. 2005 Jul;289(1):F2-7. PMID 15951478
[19] Chromosomal translocations and palindromic AT-rich repeats. Curr Opin Genet Dev. 2012 Jun; 22(3): 221-228.
These cases are patients who I, or my colleagues have seen. They are de-identified and many instances have been presented in more depth in an academic setting. These videos are not individual medical advice and are for general educational purposes only. I do not give medical advice over the internet, see your own physician in person for that.
#medicine #science
5 окт 2024
