CLINICAL
AND
LABORATORY OBSERVATIONS
Severe Anemia in an Adolescent Male With Sickle Cell Trait: A Case Report Adrian Chapa-Rodriguez, MD, Dipti Dighe, MD, and Lisa Giordano, MD
Background: Sickle cell trait is generally considered a benign condition. However, it has been associated with uncommon comorbidities such as painless gross hematuria secondary to renal papillary necrosis and renal medullary carcinoma. Observation: We present a 16-year-old African American boy with sickle cell trait and a recent history of prolonged gross hematuria due to renal papillary necrosis. The patient developed severe iron deficiency anemia and required transfusion support. Conclusions: Although renal papillary necrosis is well-described, it is uncommon in pediatrics and only rarely results in the need for transfusion. Key Words: renal papillary necrosis, sickle cell trait, gross hematuria, pediatric
(J Pediatr Hematol Oncol 2015;37:e60–e62)
S
ickle cell disease results from a single amino acid substitution in the b-globin chain, and is a very common structural hemoglobinopathy in the world. The chronic nature of this condition, together with associated comorbid complications, has severe economic and psychological implications. In the United States, it is estimated that 7% to 8% of African Americans1 and 0.05% of whites2 have sickle cell trait (SCT), and, overall, sickle cell hemoglobinopathies affect 90,000 to 100,000 people.1 SCT is generally considered a benign condition, as patients have a normal life expectancy and do not develop the complications associated with sickle cell disease. However, SCT is not always a benign condition, and has been associated with several complications, which vary in severity, from hyposthenuria and painless gross hematuria to renal medullary carcinoma.2 We present the case of a 16-year-old African American boy with SCT who presented with severe iron deficiency anemia (IDA) secondary to prolonged gross hematuria due to renal papillary necrosis (RPN).
CASE REPORT A 16-year-old African American boy presented to the Pediatric Emergency Department complaining of intermittent lower abdominal pain for approximately 1 month. The pain was described as moderate in intensity, increasing with movement, and Received for publication December 10, 2013; accepted June 30, 2014. From the Division of Pediatric Hematology/Oncology, Department of Pediatrics, John H. Stroger Jr. Hospital of Cook County, Chicago, IL. The authors declare no conflict of interest. Reprints: Dipti Dighe, MD, Division of Pediatric Hematology/Oncology, Department of Pediatrics, John H. Stroger Jr. Hospital of Cook County, 1900 West Polk Street, 11th Floor, Chicago, IL 60612 (e-mail: [email protected]). Copyright r 2014 Wolters Kluwer Health, Inc. All rights reserved.
e60 | www.jpho-online.com
without radiation, diurnal variation, or association with food intake. In addition, he had been complaining of fatigue and decreased appetite. Approximately 6 weeks before admission, he recalled becoming “dehydrated” and noted that his urine had become “dark and reddish” in color. These symptoms lasted for approximately 3 weeks, and were not associated with dysuria, fever, or back pain. He did not seek medical attention, and stated that he drank “plenty of water” and slowly noted that his urine cleared over 3 weeks. On review of systems, he denied any fever, weight loss, jaundice or scleral icterus, headaches, sore throat, cough, shortness of breath, rhinorrhea, dysphagia or odynophagia, dyspepsia, diarrhea, constipation, bloody stools, emesis, dysuria, urinary frequency, skin rashes, easy bruising, petechiae, or gingival bleeds. The patient also denied having any dizziness. His past medical history was significant for moderate persistent asthma managed with inhaled corticosteroids and a previous ankle fracture at 8 years of age. He denied having knowledge of family members with SCT/disease or disorders of coagulation. On physical examination he was a well-developed male, in no acute distress. Afebrile, pulse: 76 beats per minute, respiratory rate: 16 breaths per minute, blood pressure: 106/54 mm Hg, oxygen saturation: 96% to 100% on room air, weight 76 kg, height 184 cm, and body mass index: 23 kg/m2. Examination revealed pale conjunctivae and a grade III/VI systolic ejection murmur. His abdomen was soft, mildly tender on palpation over the periumbilical and hypogastric region, without peritoneal irritation signs or costovertebral angle tenderness, and no hepatosplenomegaly or masses were noted. The patient had a Sexual Maturity Rating of 5, and no lower extremity edema was present. There was no evidence of orthostatic hypotension. The patient did not have any prior laboratory tests done. Laboratory tests (Table 1) at our institution showed hemoglobin of 5.4 g/dL, mean corpuscular volume of 53 fL, and a red blood cell distribution width of 21%, reticulocyte count of 1.2%, and G6PD 28.8 U/g Hb; urine dipstick was normal, and on microscopic examination of the urine sediment there were no red blood cells. His complete metabolic profile was within normal limits. Sedimentation rate was 18 mm/h and C-reactive protein was 0.02 mg/ dL. An abdominal computed tomography scan with intravenous contrast showed normal liver, spleen, pancreas, and adrenal glands. The renal parenchyma was normal and there was no evidence of renal stones, hydronephrosis, or renal mass. A moderate amount of stool was present throughout the colon. After the patient was admitted for further investigation, the initial efforts were focused on finding the source of the presumed blood loss. He was started on oral ferrous sulfate 325 mg every 8 hours and was transfused 2 U of leukoreduced packed red blood cells, which resulted in an increase in hemoglobin to 8.7 g/dL. The gastroenterology service was consulted. Endomysial and gliadin IgG and IgA were negative, making celiac disease unlikely. Esophagogastroduodenoscopy, colonoscopy, and capsule endoscopic analyses were carried out to identify a potential gastrointestinal source of blood loss. These studies revealed a normal mucosa without evidence of ulcerations, polyps, vascular malformations, or any other inflammatory or anatomic changes that could account for the gastrointestinal tract as the source of his anemia. Because of his history of gross hematuria, urine chemistry, antiglomerular basement membrane antibody, C3 and C4, serum immunoglobulins, and ANA screen were performed and were normal. Iron studies were performed and showed an iron content
J Pediatr Hematol Oncol
Volume 37, Number 1, January 2015
J Pediatr Hematol Oncol
Volume 37, Number 1, January 2015
TABLE 1. Laboratory Results
Patient’s Value Complete blood count Hb (g/dL) Hct (%) PLT (/mL) MCV (fL) MCHC (g/dL) RDW (%) Retic. (%) PMN (%) Band (%) Lymph (%) Mono (%) Eos (%) Baso (%) Urinalysis Spec Gra pH Ketones L.E. Nitrite Protein Blood Urobilinogen Ur.Ca/Creat. Ur.Sodium (mEq/L) Ur. Creat. (mg/dL) Ur. Prot. (mg/dL) Ur. Osm. (mOsm/kg) Hematologic studies Hb A (%) Hb A2 (%) Hb F (%) Hb S (%) G6PD (m/g Hb) PT (s) INR PTT (s) Iron (mg/dL) UIBC (mg/dL) TIBC (mg/dL) % sat Ferritin (ng/mL) Endoscopy Upper GI Colonoscopy Capsule Rheumatology pANCA cANCA C3 (mg/dL) C4 (mg/dL) Anti-GBM Ab
Normal Range
5.4 19.1 580k 53.1 28 20.7 1.2 77 (5.4 Abs) 4 (2.8 Abs) 17 (1.2 Abs) 0 (0 Abs) 2 (0.14 Abs) 0 (0 Abs)
12.8-16 37.3-47.3 184k-485k 81.4-91.9 32.0-36.0 11.6-13.8 0.5-2.0 40-82 0-9 12-44 2-12 0-6 0-1
1.010 5.5 Negative Negative Negative Negative Negative Negative 0.17 114 154 5 466
1.005-1.025 5.0-7.0 Negative Negative Negative Negative Negative Negative < 0.14 > 20 20-350 5-20 50-600
62.5 3.6 0.7 33.2 28.8 14.6 1.19 26.1 10 431 441 2.3 9.4
95.9-97.9 2.1-4.1
AND
LABORATORY OBSERVATIONS
Severe Anemia in an Adolescent Male With Sickle Cell Trait: A Case Report Adrian Chapa-Rodriguez, MD, Dipti Dighe, MD, and Lisa Giordano, MD
Background: Sickle cell trait is generally considered a benign condition. However, it has been associated with uncommon comorbidities such as painless gross hematuria secondary to renal papillary necrosis and renal medullary carcinoma. Observation: We present a 16-year-old African American boy with sickle cell trait and a recent history of prolonged gross hematuria due to renal papillary necrosis. The patient developed severe iron deficiency anemia and required transfusion support. Conclusions: Although renal papillary necrosis is well-described, it is uncommon in pediatrics and only rarely results in the need for transfusion. Key Words: renal papillary necrosis, sickle cell trait, gross hematuria, pediatric
(J Pediatr Hematol Oncol 2015;37:e60–e62)
S
ickle cell disease results from a single amino acid substitution in the b-globin chain, and is a very common structural hemoglobinopathy in the world. The chronic nature of this condition, together with associated comorbid complications, has severe economic and psychological implications. In the United States, it is estimated that 7% to 8% of African Americans1 and 0.05% of whites2 have sickle cell trait (SCT), and, overall, sickle cell hemoglobinopathies affect 90,000 to 100,000 people.1 SCT is generally considered a benign condition, as patients have a normal life expectancy and do not develop the complications associated with sickle cell disease. However, SCT is not always a benign condition, and has been associated with several complications, which vary in severity, from hyposthenuria and painless gross hematuria to renal medullary carcinoma.2 We present the case of a 16-year-old African American boy with SCT who presented with severe iron deficiency anemia (IDA) secondary to prolonged gross hematuria due to renal papillary necrosis (RPN).
CASE REPORT A 16-year-old African American boy presented to the Pediatric Emergency Department complaining of intermittent lower abdominal pain for approximately 1 month. The pain was described as moderate in intensity, increasing with movement, and Received for publication December 10, 2013; accepted June 30, 2014. From the Division of Pediatric Hematology/Oncology, Department of Pediatrics, John H. Stroger Jr. Hospital of Cook County, Chicago, IL. The authors declare no conflict of interest. Reprints: Dipti Dighe, MD, Division of Pediatric Hematology/Oncology, Department of Pediatrics, John H. Stroger Jr. Hospital of Cook County, 1900 West Polk Street, 11th Floor, Chicago, IL 60612 (e-mail: [email protected]). Copyright r 2014 Wolters Kluwer Health, Inc. All rights reserved.
e60 | www.jpho-online.com
without radiation, diurnal variation, or association with food intake. In addition, he had been complaining of fatigue and decreased appetite. Approximately 6 weeks before admission, he recalled becoming “dehydrated” and noted that his urine had become “dark and reddish” in color. These symptoms lasted for approximately 3 weeks, and were not associated with dysuria, fever, or back pain. He did not seek medical attention, and stated that he drank “plenty of water” and slowly noted that his urine cleared over 3 weeks. On review of systems, he denied any fever, weight loss, jaundice or scleral icterus, headaches, sore throat, cough, shortness of breath, rhinorrhea, dysphagia or odynophagia, dyspepsia, diarrhea, constipation, bloody stools, emesis, dysuria, urinary frequency, skin rashes, easy bruising, petechiae, or gingival bleeds. The patient also denied having any dizziness. His past medical history was significant for moderate persistent asthma managed with inhaled corticosteroids and a previous ankle fracture at 8 years of age. He denied having knowledge of family members with SCT/disease or disorders of coagulation. On physical examination he was a well-developed male, in no acute distress. Afebrile, pulse: 76 beats per minute, respiratory rate: 16 breaths per minute, blood pressure: 106/54 mm Hg, oxygen saturation: 96% to 100% on room air, weight 76 kg, height 184 cm, and body mass index: 23 kg/m2. Examination revealed pale conjunctivae and a grade III/VI systolic ejection murmur. His abdomen was soft, mildly tender on palpation over the periumbilical and hypogastric region, without peritoneal irritation signs or costovertebral angle tenderness, and no hepatosplenomegaly or masses were noted. The patient had a Sexual Maturity Rating of 5, and no lower extremity edema was present. There was no evidence of orthostatic hypotension. The patient did not have any prior laboratory tests done. Laboratory tests (Table 1) at our institution showed hemoglobin of 5.4 g/dL, mean corpuscular volume of 53 fL, and a red blood cell distribution width of 21%, reticulocyte count of 1.2%, and G6PD 28.8 U/g Hb; urine dipstick was normal, and on microscopic examination of the urine sediment there were no red blood cells. His complete metabolic profile was within normal limits. Sedimentation rate was 18 mm/h and C-reactive protein was 0.02 mg/ dL. An abdominal computed tomography scan with intravenous contrast showed normal liver, spleen, pancreas, and adrenal glands. The renal parenchyma was normal and there was no evidence of renal stones, hydronephrosis, or renal mass. A moderate amount of stool was present throughout the colon. After the patient was admitted for further investigation, the initial efforts were focused on finding the source of the presumed blood loss. He was started on oral ferrous sulfate 325 mg every 8 hours and was transfused 2 U of leukoreduced packed red blood cells, which resulted in an increase in hemoglobin to 8.7 g/dL. The gastroenterology service was consulted. Endomysial and gliadin IgG and IgA were negative, making celiac disease unlikely. Esophagogastroduodenoscopy, colonoscopy, and capsule endoscopic analyses were carried out to identify a potential gastrointestinal source of blood loss. These studies revealed a normal mucosa without evidence of ulcerations, polyps, vascular malformations, or any other inflammatory or anatomic changes that could account for the gastrointestinal tract as the source of his anemia. Because of his history of gross hematuria, urine chemistry, antiglomerular basement membrane antibody, C3 and C4, serum immunoglobulins, and ANA screen were performed and were normal. Iron studies were performed and showed an iron content
J Pediatr Hematol Oncol
Volume 37, Number 1, January 2015
J Pediatr Hematol Oncol
Volume 37, Number 1, January 2015
TABLE 1. Laboratory Results
Patient’s Value Complete blood count Hb (g/dL) Hct (%) PLT (/mL) MCV (fL) MCHC (g/dL) RDW (%) Retic. (%) PMN (%) Band (%) Lymph (%) Mono (%) Eos (%) Baso (%) Urinalysis Spec Gra pH Ketones L.E. Nitrite Protein Blood Urobilinogen Ur.Ca/Creat. Ur.Sodium (mEq/L) Ur. Creat. (mg/dL) Ur. Prot. (mg/dL) Ur. Osm. (mOsm/kg) Hematologic studies Hb A (%) Hb A2 (%) Hb F (%) Hb S (%) G6PD (m/g Hb) PT (s) INR PTT (s) Iron (mg/dL) UIBC (mg/dL) TIBC (mg/dL) % sat Ferritin (ng/mL) Endoscopy Upper GI Colonoscopy Capsule Rheumatology pANCA cANCA C3 (mg/dL) C4 (mg/dL) Anti-GBM Ab
Normal Range
5.4 19.1 580k 53.1 28 20.7 1.2 77 (5.4 Abs) 4 (2.8 Abs) 17 (1.2 Abs) 0 (0 Abs) 2 (0.14 Abs) 0 (0 Abs)
12.8-16 37.3-47.3 184k-485k 81.4-91.9 32.0-36.0 11.6-13.8 0.5-2.0 40-82 0-9 12-44 2-12 0-6 0-1
1.010 5.5 Negative Negative Negative Negative Negative Negative 0.17 114 154 5 466
1.005-1.025 5.0-7.0 Negative Negative Negative Negative Negative Negative < 0.14 > 20 20-350 5-20 50-600
62.5 3.6 0.7 33.2 28.8 14.6 1.19 26.1 10 431 441 2.3 9.4
95.9-97.9 2.1-4.1
