Adolescent with sickle cell disease diagnosed with an inherited kidney disorder: a study

16 year old boy Sickle cell disease (SCD) was diagnosed with autosomal dominant polycystic kidney disease (ADPKD), a genetic condition that causes fluid-filled cysts to form in the kidneys, a case study says.

the report, “Dual diagnosis of autosomal dominant polycystic kidney disease and sickle cell disease in an adolescent male“in Pediatric Nephrology.

The authors stress the importance of diagnosing comorbidities in patients with sickle cell disease early in order to understand disease progression and ensure that patients receive the best possible treatment.

scd is due to mutations in beta globin (HBB) A gene that causes an abnormal version of hemoglobin — the oxygen-carrying protein in red blood cells — to be produced.

People with sickle cell disease are at increased risk of developing kidney problems compared to the general population. Kidney cysts are seen most frequently in people with sickle cell disease, with 58% of patients reporting having them.

The renal cysts in patients with sickle cell disease are similar to those in ADPKD, an inherited condition caused by mutations in PKD1 or PKD2 genes. These genes encode the proteins polycystin-1 and polycystin-2 that are key regulators of kidney cells.

Given the similarity of symptoms, it is difficult to determine whether the presence of renal cysts is due to sickle cell disease only or to partly due to ADHD, particularly in its early stages.

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A person drinks a glass of water in this illustration showing enlarged images of human kidneys.

Excessive number of renal cysts with sickle cell anemia

A recent study reported the case of a 16-year-old boy with sickle cell disease who was initially admitted to hospital nine years ago due to excessive urination at night.

At that point, imaging tests showed cysts in both kidneys Unusually large for his age, but their function was normal. He was given medication to control urination for several years. Subsequent imaging tests showed an increase in the size and number of cysts over time.

The patient was diagnosed with sickle cell nephropathy, a serious kidney complication caused by sickle cell disease, and was treated with an angiotensin-converting enzyme (ACE) inhibitor — a type of medication that helps relax blood vessels and lower blood pressure.

The boy also received antibiotics to manage sickle cell anemia and blood transfusions to prevent stroke.

As a teenager, he received blood transfusions and Hydroxyurea. It has also been monitored for a serious complication of sickle cell anemia called carotid artery stenosis, which leads to narrowing of the arteries that supply oxygenated blood from the heart to the brain.

Over time, he developed an increasing number of kidney cysts that were larger than normal for sickle cell anemia.

The researchers analyzed the sequences of 385 kidney-related genes to look for potential gene mutations to explain the development of such large cysts. Two mutations were found, one in HBB gene (c.20A>T; p.Glu7Val) and the other in PKD1 gene (c.8311G>A; p.Glu2771Lys), confirming the dual diagnosis of SCD and ADPKD.

Possible causes of SCD, ADPKD have not been researched

“Genetic testing can be an important tool in this process for patients with sickle cell disease who undergo ultrasonography. [imaging] Evidence for cysts,” the researchers wrote, noting a lack of studies reporting the occurrence of both conditions. They said this could be because “abscesses and kidney complications were attributed to sickle cell disease,” without exploring “additional causes of kidney cysts after a diagnosis of sickle cell disease.”

It may also be explained by the “shorter life expectancy historically associated with sickle cell anemia, which can limit full progression to PKD, and subsequent kidney failure,” the researchers write, adding the discrepancy “in access to quality care for people with anemia.” sickle cell disease, particularly in low-income and rural communities with limited resources” could be another explanation.

SCD and ADPKD differ in mechanisms and treatment regimens. As such, determining “a diagnosis of ADPKD in this patient could enable management changes that might otherwise not have been considered,” they write, concluding that “reporting additional cases of SCD and ADPKD occurring as a dual diagnosis” will help researchers understand Better disease course and better treatment strategies.

The boy is currently attending high school, where he needs special education. Despite his health condition, he had two SCD crises in the last year.

Recent imaging scans showed that his kidneys were still large for his age and contained a large number of cysts. Kidney function remained stable over time, as did blood pressure. MRI scans showed brain damage with mild stenosis of the right carotid artery.

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