hypocalciuma and DiGeorge 22q11.2 deletion syndrome

How Hypocalciuma(Low Calcium)affects us with 22q11.2 DiGeorge

My father has 22q, my 3 siblings have 22q I have 22q and my daughter has 22q all of us the one thing we have in common in our family is hypocalciuma. Seizures and tremmers happen when our calcium drops. When it drops to 3 I can tell and feel legarthic, faint and tremmer with hand cramps. We used to have daily then went to weekly then month now it's yearly for both bella and I. I can't say much about father or siblings as I don't live near by them but the treatment we had was intensse. This is the kind that no amount of foods or drinks will help it's the storage of calcium that drops for us. I hope that explains our issues with it. Hugs it's not easy at all I can't say much about father or siblings as I don't live near by them but the treatment we had was intensse. This is the kind that no amount of foods or drinks will help it's the storage of calcium that drops for us. I hope that explains our issues with it. it's not easy at all watching your little one get pokes from the calcium draws. When Bella was small we had to give her so many in a day then weekly then every other week and so on to now where we are at the get the test 1 time a year. Hypocalcemia (Low Level of Calcium in the Blood)

I did a search to explain it more details for you I know a lot of parents I mentor have asked me about the hypocalciuma as that is what all of us in our family who have 22q deal with

In hypocalcemia, the calcium level in blood is too low.

A low calcium level may result from a problem with the parathyroid glands, as well as from diet, kidney disorders, or certain drugs.

Hypocalciuma is not always the case of having a parathroid issue. It is important to have the throid tested but it was not the case in our family ours was from kidney not processing the calcium breaing it down and melabsorbsion

(See also Overview of Electrolytes and Overview of Calcium's Role in the Body.)

Calcium is one of the body's electrolytes, which are minerals that carry an electric charge when dissolved in body fluids such as blood (but most of the body's calcium is uncharged). Although most of the body's calcium is stored in bones, some circulates in the blood. About 40% of the calcium in blood is attached (bound) to proteins in blood, mainly albumin. Protein-bound calcium acts as a reserve source of calcium for the cells but has no active function in the body. Only unbound calcium affects the body’s functions. Thus, hypocalcemia causes problems only when the level of unbound calcium is low. Unbound calcium has an electrical (ionic) charge, so it is also called ionized calcium. Causes

Hypocalcemia most commonly results when too much calcium is lost in urine or when not enough calcium is moved from bones into the blood. Causes of hypocalcemia include the following:

A low level of parathyroid hormone (hypoparathyroidism), as can occur when the parathyroid glands are damaged during thyroid gland surgery

Lack of response to a normal level of parathyroid hormone (pseudohypoparathyroidism)

No parathyroid glands at birth (for example, in DiGeorge syndrome)

A low level of magnesium (hypomagnesemia), which reduces the activity of parathyroid hormone

Vitamin D deficiency (due to inadequate consumption or inadequate exposure to sunlight)

Kidney dysfunction, which results in more calcium excreted in urine and makes the kidneys less able to activate vitamin D

Inadequate consumption of calcium

Disorders that decrease calcium absorption

Pancreatitis

Certain drugs, including rifampin (an antibiotic), anticonvulsants (such as phenytoin and phenobarbital), bisphosphonates (such as alendronate, ibandronate, risedronate, and zoledronic acid), calcitonin, chloroquine, corticosteroids, and plicamycin

Symptoms

The calcium level in blood can be moderately low without causing any symptoms. If levels of calcium are low for long periods, people may develop dry scaly skin, brittle nails, and coarse hair. Muscle cramps involving the back and legs are common. Over time, hypocalcemia can affect the brain and cause neurologic or psychologic symptoms, such as confusion, memory loss, delirium, depression, and hallucinations. These symptoms disappear if the calcium level is restored.

An extremely low calcium level may cause tingling (often in the lips, tongue, fingers, and feet), muscle aches, spasms of the muscles in the throat (leading to difficulty breathing), stiffening and spasms of muscles (tetany), seizures, and abnormal heart rhythms. Diagnosis

Measurement of calcium level in the blood

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Hypocalcemia is often detected by routine blood tests before symptoms become obvious. Doctors measure the total calcium level (which includes calcium bound to albumin) and the albumin level in blood to determine whether the level of unbound calcium is low.

Blood tests are done to evaluate kidney function and to measure magnesium, phosphate, parathyroid hormone, and vitamin D levels. Other substances in blood may be measured to help determine the cause. Treatment

Calcium supplements

Calcium supplements, given by mouth, are often all that is needed to treat hypocalcemia. If a cause is identified, treating the disorder causing hypocalcemia or changing drugs may restore the calcium level.

Once symptoms appear, calcium is usually given intravenously. Taking vitamin D supplements helps increase the absorption of calcium from the digestive tract.