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PubMed This is a summary of 4 peer-reviewed journal articles Updated
Nephrology · Autosomal Dominant Tubulointerstitial Kidney Disease, SEC61A1-Related

Symptoms and Disease Presentation of ADTKD-SEC61A1

At a Glance

ADTKD-SEC61A1 may cause quietly worsening kidney function, high uric acid, anemia, low infection-fighting white blood cells, and growth or developmental concerns. Symptoms vary widely, and fever with significant neutropenia needs same-day urgent assessment.

Because ADTKD-SEC61A1 is so rare, its symptoms can vary widely. While some children are diagnosed in infancy with severe symptoms, others may not show signs until their teenage years or adulthood [1][2]. Understanding the two main categories of symptoms—those affecting the kidneys and those affecting other parts of the body—can help you partner with your medical team to monitor your health. The findings below are based on a limited number of published cases and should not be viewed as a predictable checklist.

Renal (Kidney) Symptoms

In ADTKD-SEC61A1, the kidneys gradually lose their ability to filter waste from the blood. This is called Chronic Kidney Disease (CKD). Unlike many other kidney diseases, ADTKD is often “quiet,” meaning it doesn’t cause obvious changes in how you feel or look until it is more advanced [2].

  • Bland Urine: A common pattern of this condition is that a urinalysis (urine test) often looks normal early on. There is typically little to no protein or blood in the urine, which is why doctors call the urine “bland” [2]. However, bland urine is not a strict diagnostic requirement. Proteinuria or hematuria may occur later as CKD advances.
  • Hyperuricemia (High Uric Acid): Some reported cases develop high levels of uric acid in their blood early in life [2]. While this can eventually lead to gout (painful joint swelling), it is often an asymptomatic laboratory finding in children.
  • Kidney Size and Cysts: On an ultrasound, the kidneys may appear normal-sized or slightly small. Some isolated cases have reported small cysts (fluid-filled sacs) within the kidneys, though this is a variable finding and not everyone develops them [2][1].
  • Blood Pressure and Salt Balance: In specific instances, especially in severe infant cases, the kidneys may struggle to balance salt and potassium. This can lead to low blood pressure (hypotension) and high potassium levels (hyperkalemia) [1].

Extrarenal (Non-Kidney) Symptoms

Because the SEC61A1 gene is active in various tissues, this subtype of ADTKD often involves symptoms outside the kidneys. These “extrarenal” features are often what lead doctors to suspect this specific genetic cause [2].

  • Anemia: Many individuals develop normochromic normocytic anemia, which means they have fewer red blood cells than normal, but the cells themselves are of a normal size and color [3][2]. This can cause fatigue or pale skin.
  • Neutropenia and Agranulocytosis: Some experience neutropenia or its more severe form, agranulocytosis—a significantly low level of neutrophils, the white blood cells that fight infections [3][2]. This can make a person much more susceptible to severe infections.
  • Growth and Development: Growth delays, such as intrauterine growth restriction (being born small for gestational age) or general growth retardation, have been reported [3][2].
  • Neurologic and Cognitive Issues: Rare cases have included microcephaly (a smaller than average head size), seizures, or developmental delays [4][2]. These are isolated case observations, not universal expectations.

URGENT WARNING: Fever and Neutropenia Safety Plan

If you or your child has significant neutropenia or agranulocytosis, you must have a strict emergency plan. Do not wait for a “persistent” fever. A single temperature of 38.0°C (100.4°F) or higher, chills, severe mouth sores, lethargy, or rapidly worsening illness requires immediate, same-day assessment at an emergency department or urgent care, according to your clinician’s written plan. Always clarify your after-hours contact plan with your hematologist.

A Highly Variable Timeline

It is important to remember that there is no “standard” case of ADTKD-SEC61A1. Some present in the first year of life with severe kidney failure and growth issues, while others are diagnosed decades later after an incidental finding of high creatinine (a waste product used to measure kidney function) [1][2].

In one single published case report, a child who had severe kidney impairment as an infant saw an improvement in their estimated kidney function (eGFR) measurements by age nine after receiving specific treatment for low blood pressure and salt imbalance [1]. It is critical to understand that this eGFR improvement reflects the correction of a reversible blood-flow factor (volume depletion), not a reversal of the underlying genetic disease, whose natural history remains uncertain.

Common questions in this guide

What kidney symptoms can ADTKD-SEC61A1 cause?
Kidney function may decline gradually, often without obvious symptoms at first. Urine may look normal with little protein or blood, while high uric acid, elevated creatinine, small kidneys or cysts, low blood pressure, and high potassium can occur in some people.
What problems outside the kidneys are linked to ADTKD-SEC61A1?
Reported non-kidney findings include anemia, low neutrophil levels, and the more severe condition agranulocytosis, which increases the risk of serious infections. Growth restriction, delayed development, small head size, and seizures have also been reported in some cases, but these findings are not present in everyone.
When is a fever an emergency for someone with ADTKD-SEC61A1 and neutropenia?
A temperature of 38.0°C (100.4°F) or higher, chills, severe mouth sores, unusual sleepiness, or rapidly worsening illness requires immediate same-day assessment when significant neutropenia or agranulocytosis is present. Follow the written plan from the treating clinician, including whether to go to an emergency department or urgent care, and do not wait for the fever to persist.
Does ADTKD-SEC61A1 always begin in childhood?
No. Some children develop severe kidney disease and growth problems during infancy, while other people are diagnosed as teenagers or adults after an incidental finding such as high creatinine. The severity and timing can differ substantially between individuals and families.
Why are blood counts, uric acid, and growth monitored in ADTKD-SEC61A1?
Blood counts can identify anemia or low neutrophils before complications develop, and uric acid monitoring can help clinicians assess the risk of gout. Tracking growth and development is especially important for children because growth delay has been reported. Kidney function, including eGFR, is also followed over time.
Should a person with ADTKD-SEC61A1 see a hematologist?
A hematology consultation may be appropriate when anemia, neutropenia, or agranulocytosis is present or suspected. The treating team can decide how often blood counts should be checked and can provide an individualized infection and fever plan.

Questions For You

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Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.How does the current eGFR (kidney function measure) compare to our previous visits?
  2. 2.At what point or uric acid level would we consider urate-lowering treatment to prevent complications like gout?
  3. 3.Given the risk of agranulocytosis, what is our exact emergency protocol if a fever or severe mouth sore occurs?
  4. 4.Should we consult with a hematologist to manage the anemia and closely monitor white blood cell counts?
  5. 5.How often should we monitor growth and development to ensure any delays are caught early?

References

References (4)
  1. 1

    Hypoaldosteronism due to a novel SEC61A1 variant successfully treated with fludrocortisone.

    Karpman D, Lindström ML, Möller M, et al.

    Clinical kidney journal 2024; (17(8)):sfae213 doi:10.1093/ckj/sfae213.

    PMID: 39135939
  2. 2

    De novo SEC61A1 mutation in congenital anemia and early-onset kidney disease: Case report and review of the literature.

    Zhong L, Ding J, Ma M, et al.

    Gene 2026; (993()):150106 doi:10.1016/j.gene.2026.150106.

    PMID: 41850665
  3. 3

    Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia.

    Bolar NA, Golzio C, Živná M, et al.

    American journal of human genetics 2016; (99(1)):174-87.

    PMID: 27392076
  4. 4

    Rare forms of autosomal dominant tubulointerstitial kidney disease in children: a retrospective case series from Oman.

    Al Ghaithi B, Al Hashmi S, Al Alawi I, et al.

    Pediatric nephrology (Berlin, Germany) 2026; doi:10.1007/s00467-026-07519-9.

    PMID: 42730770

This page is for informational purposes only and does not constitute medical advice. Discuss ADTKD-SEC61A1 symptoms, test results, and any fever or neutropenia emergency plan with your nephrologist and hematology team.