Lowe syndrome

Find out about Lowe syndrome: symptoms, diagnosis, treatment and sources of further information and support.

What is Lowe syndrome?

Lowe syndrome is a very rare genetic kidney condition that causes severe physical and cognitive disabilities. It is named after Dr Lowe, an American kidney doctor who first identified the condition in 1952.

Lowe syndrome is also sometimes called oculo-cerebro-renal syndrome (OCNL) because of the parts of the body it affects:

oculo - eyes

cerebro - central nervous system (brain and spinal cord)

renal - kidneys.

Lowe syndrome affects around in in 500,000 people in the UK and almost always only affects boys.

What are the signs and symptoms of Lowe syndrome?

All babies with Lowe syndrome have cataracts over their eyes, which form before birth. Other common symptoms include:

  • difficulty feeding
  • persistent thirst
  • softening of the bones (rickets)
  • developmental delay
  • muscle weakness or floppiness (hypotonia)
  • lack of muscle response to stimulus (areflexia)
  • dental problems.

Some people with Lowe syndrome have kidney stones. These can cause pain in the lower back or groin (renal colic), which can come and go in waves and range from mild to severe. Repeated kidney stones can cause blockages to the urinary system, which can eventually lead to kidney damage.

Around eight in 10 people with Lowe syndrome have behavioural problems, which tend to develop around the age of five. These can range from mild to severe and include persistent crying, yelling, hitting, throwing objects and running away.

Intellectual difficulties or disabilities occur in up to one in four people. Speech problems can also develop around the age of five.

The severity of symptoms can vary. Some children can attend mainstream school with minimal assistance and lead independent lives as adults, whereas others will require full-time residential care throughout their lives.

  • Seizures occur in half of all adults with Lowe syndrome.
  • Male fertility can be reduced.
  • Joint problems, skin cysts and deterioration of kidney function can also occur in adulthood.
  • People with Lowe syndrome are at increased risk of excess bleeding after an injury or operation.

What causes Lowe syndrome?

Lowe syndrome occurs due to the lack of an essential enzyme called phosphatidylinositol (4,5) bisphosphonate (5) (PIP2-5) phosphatase. The loss of this enzyme prevents the kidneys from reabsorbing nutrients from the bloodstream.

This fault also causes too much calcium to be left behind in the urine, which builds up in the tiny tubes of the kidneys (tubules), like hard water furring up in a kettle. Over time, these calcium deposits can turn into kidney stones, which can block the urinary system and cause tissue damage.

How is Lowe syndrome diagnosed?

Lowe syndrome is usually diagnosed shortly after birth due to the presence of cataracts. The diagnosis can be confirmed by blood and urine tests. Genetic testing may also be offered.

Does Lowe syndrome affect other parts of the body?

Lowe syndrome can cause problems with the eyes and brain development, as well as problems with the kidneys.

Does Lowe syndrome run in families?

Lowe syndrome is a genetic condition so it can be inherited. It is caused by an abnormality or mutation in a gene called OCRL1, which is found on the X chromosome.

Women have two X chromosomes, so the healthy gene compensates for the damaged one. However, men only have one X chromosome, so they have no back up if the gene is damaged. This is why Lowe syndrome occurs almost exclusively in men, although a very small number of cases have been diagnosed in women.

Women with one damaged gene are known as carriers. There is a one in two chance that they will pass the damaged gene onto their children. If they pass it onto their daughter, she will also be a carrier. If they pass the gene onto their son, they will develop the condition.

Affected men cannot pass the condition onto their sons as they inherit the Y chromosome but will pass it onto their daughters who will be carriers.

In one in three cases, a genetic change occurs spontaneously. This can cause Lowe syndrome to develop in someone whose parents who do not have the mutated gene. This new mutation can then be passed onto the next generation.

Lowe sydrome - inheritance diagram
X-linked inheritance in Lowe syndrome

How is Lowe syndrome treated?

There is no specific treatment for Lowe syndrome, so care focuses on reducing symptoms to improve quality of life.

Cataract surgery can improve eyesight. This is usually carried out shortly after birth. Glasses and prescription eye drops are often needed to maintain eyesight, although vision usually remains affected to some degree.

Dietary supplements can boost growth and development, although children with Lowe syndrome usually remain small for their age.

Vitamin D supplements can help to prevent or treat rickets.

Anticonvulsant medications may be prescribed to reduce seizures.

Physical therapy can help to treat muscle weakness therapy.

Behavioural support is often needed throughout childhood and into adulthood, especially in education.

Alkaline supplements may be prescribed to try and stop kidney stones from forming. If they do develop, small kidney stones can be passed in the urine with little or no pain and may just require monitoring with ultrasound scans to check their location.

However, large stones may require surgery, especially if they are at risk of causing blockages in the kidney and lead to long-term damage. There are various ways that stones can be removed.

  • Lithotripsy – uses sound waves to break the stones into smaller pieces that can then be passed in the urine.
  • Endoscopy – involves passing a flexible fibre optic ‘telescope’ called an endoscope up the bladder and ureters to see the stone directly. Special tools built into the endoscope are used to capture or break up the stone so it can be removed more easily.
  • Open surgery – to remove stones is rarely needed.

Kidney failure usually develops by the age of 50. Dialysis and/or transplant may then be needed.

Where can I get more information or support about Lowe syndrome?

For more information on Lowe syndrome, including its diagnosis, symptoms and treatment, visit The Lowe Syndrome Trust.

Publication date: 11/2023

Review date: 11/2026

This resource was produced according to PIF TICK standards. PIF TICK is the UK’s only assessed quality mark for print and online health and care information. Kidney Care UK is PIF TICK accredited.