my friends and friends friends

Pseudohypoparathyroidism

Pseudohypoparathyroidism is a condition associated primarily with resistance to the parathyroid hormone. Thoses with the condition have a low serum calcium and high phosphate, but the parathyroid hormone level (PTH) is appropriately high (due to the low level of calcium in the blood). Its pathogenesis has been linked to dysfunctional G proteins (in particular, Gs alpha subunit). The condition is extremely rare, with an estimated overall prevalence of 7.2/1,000,000 or approximately 1/140000. Patients may present with features of hypocalcemia including carpopedal musculer spasms, cramping, tetany, and if the calcium deflict in servere, generalized seizures. IQ is typically midly depressed or unaffected. Additional characteristics include short stature, obesity, developmental delay, and cacification of the basical ganglia in the deep white matter of the brain. The term pseudohypoparathyroidism is used to a condition where the individual has the phenotypic appearance of pseudohypoparathyroidism type 1a, but is biochemically normal. Type 1a pseudohypoparathyroidism is clinically manifest by bone resorption with blunting of the fourth and fifth knuckles of the hand, most notable when the dorsum of the hand is viewed in closed fist position. This presentation is known as 'knuckle knuckle dimple dimple' sign (archibald's Sign). This is an opposed to Turner syndrome which is characterized by blunting of only the fourth knuckle, and Down's syndrome, which is associated with a hypoplastic middle phalanx. Calcium and Calcitriol supplements, the latter with a larger dose than for treatment of hypoparathyroidism. While biochemically similar, type 1 and 2 disease may be distinguished by the differing urinary excretion of cyclic AMP in response exogenous PTH. Some sources also refer to a "type 1c". 

It all started when i was 1&1/2 i fell off my mom and dad's bed and broke my femur the hardest bone to break in your entire body and i use to have seizures back then to anyway when they did testing they found out that i was sick with pseudohypoparathyroidism and hypoparathyroidism you will see what hypoparathyroidism is after this paragraph so these dieases are rare dieases. so i cant pick up any small things only big things well that's all.

                                                                           Hypoparathyroidism

Hypoparathyroidism is decreased function of the parathyroid glands with underproduction hormone. This can lead to low levels of calcium in the blood, often causing cramping and twitching of muscles or tetany (involuntary muscle contraction), and several other different symptoms. The condition can be inherited, but it is also encountered after thyroid or parathyroid glands surgery, and it can be caused by immune system- related damage as well as a number of rarer causes. The diagnosis is made with blood tests, and other investigations such as genetic testing depending on the results. The treatment of hypoparathyroidism is limited by the fact that there is no exact form of the hormone that can be administered as replacement. However teriparatide, brand name Forteo, a biosimilar peptide to parathyroid hormone, may be given by injection. Calcium replacement or vitamin D can ameliorate the symptoms but can increase the risk of kidney stones and chronic kidney disease. Severe hypocalcaemia, potentially life-threatening condition, is treated as soon as possible with intravenous calcium (e.g. as calcium gluconate). Generally, a central venous catheter is recommended, as the calcium can irritate peripherial veins and cause phlebitis. In the event of a life-threatening attack of low calcium levels or tetany (prolonged muscle contractions), calcium administered by intravenous (IV) infusion. Precautions are taken to prevent seizures or larynx spasms. The heart is monitored for abnormal rhythms until the person is stable. When the life-threatening has been controlled, treatment continues with medicine taken by mouth as often as four times a day. Long-term treatment of hypoparathyroidism is with vitamin D analogs and calcium supplementation, but may be ineffective in some due to potential renal damage. The N-terminal fragment of parathyroid hormone (PTH 1-34) and full biological activity. The use of pump delivery of synthetic PTH 1-34 provides the closest approach to physiologic PTH replacement therapy. Injections of recombinant human parathyroid hormone are available as treatment in those with low blood calcium levels. Diagnosis is by measurement of calcium , serum albumin (for correction) and PTH in blood.