Pyruvate Kinase Deficiency (Haemolytic Anaemia)

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The following labs currently test for Pyruvate Kinase Deficiency (PKD) or Haemolytic Anaemia (HA) by DNA test. Through clinical assessment and andecdotally reported longevity os PK-deficient dogs, it appears that Basenjis have a more severe haemolytic anaemia leading to earlier death an other breeds affected by this disease such as Beagles. Basenjis with this condition do not live past 5 years most dying much earlier where as in Beagles they can live to 9 years. The disease is autosomal recessive with normal, carrier and affected results. Testing began in the 1970s using blood samples. The good news is that due to the diligence of breeders this condition is thought to be eradicated from the breed; only one carrier has been reported in the past 15+ years.

Disease Gene Mutation Information
Mutation: single base deletion
Gene: PK-LR Gene ID: 490425
Chromosome: 7

What is Cystinuria?

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cystinuriaWhat is Cystinuria?
Cystinuria is a genetic defect. The defect affects the kidney tubules. This in turn affects the kidney's ability to filter cystine (an amino acid). The filtering process prevents this amino acid from going the urine. When this filtering action fails cystine passes into the urine. Over time crystals and/or stones can form. These stones can enter the urethra and cause an obstruction preventing the flow of urine. This form of blockage is more common in males due to their anatomy. Once there is a blockage the bladder is unable to empty. The bladder is likely to rupture which can be fatal.

Cystinuria is congenital in dogs where the issue is more common. Cystinuria is more common in Newfoundlands, Labradors, and Scottish Deerhounds. However, it can take many years for the crystals/stones to form in order that symptoms present themselves. Sometimes symptoms do not present themselves.

Unlike other bladder stones, cystine stones will not generally dissolve or breakdown with treatment. There are some drugs that can be given to try and break down the stones. These drugs are risky and are expensive. Drugs are not typically advised unless there are no other options. Generally, the stones are removed surgically.

In Basenjis, the symptoms may present at 17 months-11 years old. Cystinuria has been known in Basenjis for a long time. It is mentioned in the Complete Basenji by Elspet Ford. Although cases are rare this issue seems to be on the increase.


Mode of Inheritance
The mode of inheritance in Newfoundlands and Labradors is autosomal recessive. However, there is evidence pointing to the mode of inheritance being  autosomal recessive with incomplete penetrance. That is a trigger is thought to be required for dogs predisposing of cystinuria to develop stones. The mode of inheritance in other breeds, although thought to be autosomal recessive, is not confirmed. The University of Pennsylvania are researching this issue in dogs and cats.

Symptoms

  • obvious pain when attempting to urinate;
  • poor urine flow;
  • blood in the urine;
  • a fowl rotten egg smell to the urine due to the presence of cystine crystals;
  • dogs become despondent;
  • walk with back arched due to pain in the kidney location; and/or
  • cannot pass urine due to a blockage (this needs immediate veterinary treatment)

Treatment

In cases where a dog is diagnosed with this condition but is not presenting:

  • crystals and/or stones;
  • problems urinating; and/or
  • signs of pain or discomfort;

a special diet may be advised. This diet is usually very low in protein which can help reduce the risk of stones forming. Some supplements can also be administered to reduce the risk of stones forming. In the case where stones have formed usually the only course is to have them surgically removed. Removal will prevent possible blockages in the urinary tract. When a blockage has occurred a process called retrograde-hydropulsion is employed. This process pushes the stone back into the bladder. Once the stone is in the bladder it can be removed.

Prognosis

Once diagnoses the prognosis is generally good. A change of diet is generally recommended. Further testing might be required to ensure that stones do not form. Once removed stones can re-form so continued observation is required.

New Information

It seems that most Basenji males block with this condition in the winter months. Basenji males have a season in the Autumn. Basenjis do not tend to drink as much coupled with the holding on (to mark) during the breeding season allows for the urine to be ultra-concentrated during the breeding season. The concentration of urine to any dog predisposed for this issue (has a genetic predisposition) allows for the formation of cystine crystal which then in turn form stones. It is thought that the formation of crystals and stone can take place within a few months hence blockages occur during the winter months. The fact that most Basenjis are house dogs and will hold-on as long as possible because they prefer not to go outside in the cold could also be a factor in the concentration of urine.

Prevention

Although there is no known prevention as such. Keeping male Basenjis hydrated before, during and after the breeding season may assist with preventing the issue in any that may be predisposed for it. Most Basenjis who have blocked were also fed a kibble diet. Feeding a raw based diet where water can be added to the food to increase the water consumption and therefore the hydration of the dog may also be of some benefit.

It is a good idea for owners to watch all males urinate at least once per day. If the flow is strong then the dog is fine. If the flow is not strong and the dog looks laboured then further observation will be required - remember that during the breeding season Basenjis will urinate a little bit a lot - it is not the amount that is important it is if it's a good stream or a dripping trickle that is important to observe. If the Basenji is generally clean, as most males are, and you notice that his bedding is damp or wet with urine in the morning - observe the Basenji urinating.

Should your Basenji try to urinate and no urine presents and the dog is obviously trying but is unable to go and is uncomfortable the dog may have blocked. If so this is a medical emergency. You need to get your Basenji to the vet immediately. If you do not act quickly this can be a fatal condition.

What is Immunoproliferative Small Intestinal Disease (IPSID)?

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Immunoproliferative Small Intestinal Disease (IPSID) is a disease that is known by a number of other names; malabsorption, diarroeal syndrome, immunoproliferative enteropathy. In Basenjis in particular, a hereditary lymphocytic-plasmacytic enteritis has been identified. The mode of inheritance is unknown. The disease is now rare in Basenjis. It is possible that the disease is autosomal recessive with incomplete penetrance. Other factors, triggers, maybe required for symptoms in Basenjis that are 'predisposed' to the condition to present themselves. A dietary factor could be required ti 'trigger' the disease.

How is IPSID Diagnosed and Treated?

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Usually IPSID is seen in young adult to middle aged Basenjis. Generally it starts with loss of appetite followed by bouts of sever diarrhoea. The trigger for Basenji predisposed to this condition may be stress related. A stressful event such a travel or boarding may 'bring on' the disease. Weight loss is common due to loss of nutrients and protein from the gut.

Symptoms include:

  • weight loss;
  • vomiting;
  • diarrhoea;
  • increased and decreased appetite;
  • emaciation;
  • skin lesions;
  • hyperpigmentation of the ears and thickening of the ear leather;
  • hairloss in the ear and on the stomach;
  • hypergastrinemia;
  • lethargy and/or depression.

Diagnosis
Generally, diagnosis is not simple.  There are many diseases and issues that cause the symptoms. A process of elimination and/or several diagnosis processes are employed;  blood (serum protein levels, low albumin, high globulin and high IgA levels) tests and  fecal tests can rule out some other issues such as parasites and bacterial infections. A biopsy is one of the most important diagnosis tools. Other possible causes of the symptoms including gardia and food allergies should be ruled out.

Treatment
There is no cure for the condition. IPSID can be controlled if caught early. Diet may need to be changed. Prednisone can be used in a treatment regime starting at a high dose and the gradually reducing the dose. Prednisone suppresses the hyperactive immune response and decreases inflammation.

 

What is an Inguinal Hernia?

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What is an Inguinal Hernia?
Inguinal hernia are much more serious than umbilical hernias. They present themselves in the groin. They are more commonly found in females and especially those that are pregnant, experiencing bloating or constipation. In the case of an inguinal hernia tissue that belongs in the abdomen presses out though a week area. This area surrounds the femoral artery and nerve. The protrusion can be on one or both sides. In dogs such hernias are generally found on one side. The left side being the most common. The mass is not painful to touch. It is generally has a doughy consistency. Inguinal hernia have been diagnosed in Basenjis but are generally rare.

An inguinal hernia has been found what next?
When a vet has diagnosed an inguinal hernia, generally it should be removed as soon as possible. Surgery is generally successful.

Note: Basenjis with inguinal hernias should not be bred.

What is an Umbilical Hernia?

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What is an Umbilical Hernia?
Umbilical hernias are not uncommon in Basenjis. This type of hernia is generally congenital, and is thought to be inherited. It may not been seen in a very young puppy but as they get a little older and onto their feet the hernia appears. Normally and umbilical hernia will present itself as a soft, round mass located at the umbilicus (navel or belly button). Sometimes this mass will go up and down, especially if pressed in a young puppy. Pressing and holding the mass when handling the puppy can cause it to be retained in the abdomen and the protrusion will no longer be visible. Closure of the umbilicus can sometimes take up to 6 months so it is worth holding the mass in as long as possible when handling the puppy. An umbilical hernia can also appear hard this is generally when fat has become trapped outside the abdomen.  An umbilical hernia may become more pronounced and/or visible when a dog ages. This could be due to increased pressure in the abdomen caused by the dog being overweight and due to trauma.

How are they treated?
Most small hernias that no longer move up and down contain only fat. This type of umbilical hernia is of little significance. When handling puppies the mass should be be held in for as long as possible. Closure of the umbilicus with the mass inside the abdomen has been known to occur up to 6 months of age, sometimes longer. Occasionally the mass will include part of the intestine which can cause more serious complications, including blockage if the part of the intestine gets trapped when the umbilicus closes. This type of hernia may need surgery to repair it. Umbilical hernias are generally treated based on risk. Most will not cause a blockage and if surgery is carried out it will generally be at a time when the dog is undergoing other surgical treatment, e.g. desexing.

I think my dog has had a Cerebrovascular Accident what do I do?

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I think my dog has had a Cerebrovascular Accident (CVA) what can I do?

Firstly take your dogs to your vet. Once diagnosed your vet will give you some medication. Be sure to advise your vet that Basenjis often look really bad when having a CVA but given the correct medication they normally recover very well.

In addition to the medications prescribed by your vet there are a few other things that you can do to assist your dogs speedy recovery:

  • Place the dog in a room with a comfortable temperature, i.e. not too hot or too cold;
  • Crate the dog if possible so the dog can't do more damage by wandering off when so dizzy;
  • Keep lights dim and minimal stimulation re noise etc.;
  • Avoid extremes of temperature;
  • Syringe teaspoons of water into mouth every 2-3 hrs first day – don't worry too much about them eating for the first 24-48hrs but on the second day you can try them with food;
  • Avoid any fatty or high meat diet meals for a while; and
  • Vegies and some boiled chicken or white fish usually the second day. Serve in small balls handed to the dog for a few days as eyes moving so fast and the dog so dizzy that they can't work out how to get the head in the bowl and pick up the food.

Note: it can take 4 days for a dog to begin to improve. They are normally back to normal by about day 10.

What are the signs of a Cerebrovascular Accident?

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What are the signs of a Cerebrovascular Accident? (CVA). They are very much like strokes. Signs of strokes in dogs are different to the signs in humans. In humans a drooping face or partial paralysis of one side of the body are common signs. Such signs are rarely associated with strokes in dogs.

In the case of a CVA the dog generally appears mildly drunk and uncoordinated. They may circle and fall down. In Basenjis these symptoms seem to me much worse than with other breeds. They might look severely drunk, like a new born Bambi with a head injury. They are prone to knuckle over and fall down regularly. As Dr Aine Seavers writes ' they truly look horrendous'. Dr Seavers is concerned that Basenjis showing these signs may be put to sleep, when normally even the most horrendous cases will fully recover given the right medication and time.

The other thing to note is that unlike other breeds, elderly Basenjis can have more than one episode. The CVA's usually occur either around Easter as they strut their old bodies like they are 2 years old. They are not 2 years old, so they have an episode or if the weather suddenly turns cold or there is an extended cold period. They recover and the newer medications we have make them more comfortable and appear to return to normal faster as well. Unlike with a stoke a second episode doesn't mean anything. Often a dog will go many months to several years without further episode. If however if you get multiple episodes in a short space of time then that case needs to be looked at differently.

PRA in Basenjis

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The following laboratories test for PRA in Basenjis. The test is a DNA test. The disease is autosomal recessive with normal, carrier and affected results.

Disease Gene Mutation Information
Mutation: C.1216T>6
Gene: SAG
Chromosome: 25
Research Link:  http://www.molvis.org/molvis/v19/1871/mv-v19-1871….

Fanconi Syndrome in Basenjis

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The following labs currently test for fanconi syndrome by DNA test. The disease is autosomal recessive with normal, carrier and affected results.

Disease Gene Mutation Information
Mutation: 321bp deletion
Gene: FAN1
OMIM: 134600,227810
OMIA: 000366-9615
Chromosome: 3
Research Link: http://www.ashg.org/2012meeting/abstracts/fulltext…

 

 

How is Exocrine Pancreatic Insufficiency diagnosed and treated?

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Diagnosis
Exocrine Pancreatic Insufficiency (EPI) is diagnosed by a blood test (TLI). The TLI test looks for trypsin-like enzymes in the bloodstream. An EPI affected dog will have almost no TLI in the bloodstream. The dog must be fasted before the blood is drawn but unlike the faecal test only one blood test is required to make a diagnosis. Another popular test is a faecal protease test. A stool sample is taken and tested for protein digesting enzymes. Fasting is not required for this test but three consecutive samples are required to obtain a consistent result due to the large variability in faecal enzyme activity.  Another faecal test, tests for elastase. Only one sample is required. However, sometimes normal dogs will test negative for elastase. This means that EPI can be ruled out when the elastase test is positive but not confirmed when the elastase test is negative.

Treatment
Generally treatment for EPI involves supplementation of the dog with digestive enzymes, this is an effective treatment. Generally, treatment continues for the rest of the dogs life or symptoms are likely to return. A change in diet may also be a good idea. Generally, in EPI patients, a diet with foods that are low in fibre and fat are useful for dogs that have trouble gaining weight. EPI dogs commonly have a secondary condition - a bacterial overgrowth in their intestines. This usually results in a vitamin B-12 deficiency as the bacteria consume this vitamin before the animal can. A course of antibiotics usually corrects the overgrowth problem along with vitamin B-12 supplementation.