青少年起病的成人型糖尿病（MODY）是一类特殊类型糖尿病。MODY10是其中一种较为罕见的类型，与胰岛素基因突变导致胰岛素的合成和分泌障碍有关，大多呈常染色体显性遗传，家族成员中可有不同的临床表现。本文报道1个以低钾性周期性麻痹为主要表现、经全外显子基因检测证实为胰岛素基因突变的MODY10家系，拟通过该病例的诊治体会并结合国内外文献复习，提高临床医生对该特殊类型糖尿病的认识。.

A 32-year-old multigravida woman, with known familial hypokalaemic periodic paralysis, underwent spinal anaesthesia for an elective lower segment caesarean section. There are several case reports in the literature discussing the optimal anaesthetic technique. In the past there has not been an emphasis on aggressive and early potassium replacement. A target level to commence replacement of potassium at 4.0 mmol/L or less is proposed. Careful preoperative preparation, frequent perioperative monitoring and early potassium replacement resulted in no perioperative episodes of weakness in this case, in contrast with other case reports where potassium was either not monitored or not replaced early enough, resulting in postoperative attacks. Another factor to consider in hypokalaemic periodic paralysis is the avoidance of triggers, including certain medications. Misoprostol was used in this instance to avoid potential electrolyte derangements from other uterotonics.

Introduction: Thyrotoxic periodic paralysis (TPP) is a type of hypokalemic periodic paralysis that is caused by an underlying thyrotoxicosis. It is a rare cause of hypokalemia due to intracellular potassium shift, causing acute muscle weakness.Case presentation: We present a case of a 19-year-old male of Thai descent with acute proximal symmetric lower limb weakness. The combination of these symptoms with profound hypokalemia, rapid recovery after normalization of serum potassium, and evidence of hyperthyroidism led to the diagnosis of thyrotoxic periodic paralysis, in this case due to an underlying Graves\' disease.Conclusion: Clinicians should consider the diagnosis of TPP when a patient presents with the triad of acute paresis, profound hypokalemia and hyperthyroidism.

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Hypokalemic periodic paralysis (hypoPP) is a rare channelopathy caused by mutations in skeletal muscle ion channels that usually occurs in young individuals and adolescents. The etiology can be attributed to various factors, such as idiopathic or secondary causes. It is characterized by episodes of sudden flaccid muscle weakness. Timely detection may mitigate the risk of severe complications. Secondary causes of hypoPP, such as hyperthyroidism, should be ruled out, as this could lead to thyrotoxic periodic paralysis. We report the case of a 19-year-old boy who presented to the ED with severe weakness in both the upper and lower extremities. The weakness rapidly progressed to his trunk and was accompanied by acute urinary retention. The physical examination was significant for bilateral upper and lower extremity weakness. Subsequent laboratory investigations revealed markedly low serum potassium levels. The patient\'s symptoms resolved after the replacement of potassium, and he was discharged without neurological deficits. Although rarely accompanied by acute urinary retention, hypoPP must be differentiated from other causes of weakness and paralysis so that the proper treatment can be initiated quickly. The rarity of hypoPP, a condition seldom encountered in clinical practice, and the added rarity of its coexistence with acute urinary retention further underscore the uniqueness of this case report.

The rare neuromuscular disease known as hypokalemic periodic paralysis (hypoKPP), which results in severe muscle weakness in the extremities, is brought on by abnormalities in potassium transport within cells. Laboratory testing is confirmatory, which reveals notably low potassium levels, causing paralysis, which improves once the low potassium is restored. The patient generally complains of muscle weakness with difficulty in performing activities of daily living and impaired participation in functional tasks, with few suffering from coexisting sensory impairments. Physiotherapy generally plays a symptomatic role with motion exercises for the affected muscle groups. There is no standardized physiotherapy protocol for disease-specific impairments. A 46-year-old man complained of bilateral upper and lower limb muscular weakness and was admitted to the neurology ward. The patient also complained of having tingling numbness throughout their entire limbs and had experienced similar episodes of symptoms six months prior. During laboratory evaluation, a significantly low potassium level was found, leading to a diagnosis of hypoKPP. Following medical management, neurophysiotherapy was initiated. Physiotherapy strategy shows significant improvement in muscular strength and functional activities. Thus, this case report concludes that physiotherapy plays a vital role in managing hypoKPP by enhancing muscular strength, functional activities, and quality of life.

UNASSIGNED: Hypokalemic periodic paralysis (HypoKPP) is a rare neuromuscular genetic disorder causing recurrent episodes of flaccid paralysis. Most cases are associated with CACNA1S mutation, causing defect of calcium channel and subsequent impairment of muscle functions. Due to defined management approaches early diagnosis is crucial for promptly treatment and prevention new attacks.
UNASSIGNED: We report a case of HypoKPP associated with previously unreported mutation in CACNA1S gene (p.R900M). Molecular modeling of CaV1.1 was applied to evaluate its pathogenicity.
UNASSIGNED: As a patient referred between attacks neurological status, laboratory and neurophysiological examination were unremarkable. Molecular modeling predicted that the p.R900M mutation affects the process of calcium channels activation.
UNASSIGNED: Novel CACNA1S mutation, associated with HypoKPP was identified. Monte-Carlo energy minimization of the CaV1.1 model supported the association of this mutation with this disease.

The CACNA1S gene encodes the alpha 1 S-subunit of the voltage-gated calcium channel, which is primarily expressed in the skeletal muscle cells. Pathogenic variants of CACNA1S can cause hypokalemic periodic paralysis (HypoPP), malignant hyperthermia susceptibility, and congenital myopathy. We aimed to study the clinical and molecular features of a male child with a CACNA1S variant and depict the molecular sub-regional characteristics of different phenotypes associated with CACNA1S variants.
We presented a case of HypoPP with recurrent muscle weakness and hypokalemia. Genetic analyses of the family members revealed that the proband had a novel c.497 C > A (p.Ala166Asp) variant of CACNA1S, which was inherited from his father. The diagnosis of HypoPP was established in the proband as he met the consensus diagnostic criteria. The patient and his parents were informed to avoid the classical triggers of HypoPP. The attacks of the patient are prevented by lifestyle changes and nutritional counseling. We also showed the molecular sub-regional location of the variants of CACNA1S which was associated with different phenotypes.
Our results identified a new variant of CACNA1S and expanded the spectrum of variants associated with HypoPP. Early genetic diagnosis can help avoid diagnostic delays, perform genetic counseling, provide proper treatment, and reduce morbidity and mortality.

Hypokalemic periodic paralysis (HypoPP) is a rare autosomal dominant disease caused by mutations in either calcium or sodium transmembrane voltage-gated ion channels of skeletal muscle or endoplasmic reticulum. Most cases of HypoPP are associated with a mutation in the gene encoding a calcium channel, the CACNA1S gene. Mutations in the channels create leakage currents that disrupt resting potential and depolarize the muscle fiber resulting in transient flaccid paralysis and low extracellular potassium (K+). Patients experience episodes of muscle paralysis typically provoked by exertion and diet. Treatment focuses on the prevention of such episodes with carbonic-anhydrase inhibitors or potassium-sparing diuretics as well as to treatment of acute episodes with oral K+ supplementation. Due to the rarity of the disease, the literature surrounding the disease and pharmacological management is limited. We present a case of two adolescent brothers who present with a confirmed diagnosis of periodic episodes of paralysis and are seeking treatment. Both brothers experience paralytic episodes provoked by acute changes in diet and exercise. However, the lack of literature and treatment guidelines surrounding the disease emphasizes the importance of documenting cases and the effectiveness of treatment outcomes. Additionally, it reminds providers to keep HypoPP on the differential when faced with a young patient experiencing paralytic episodes.

Description Periodic paralysis is a group of muscle diseases that are related to transmembrane ion channels. Dysfunction of these channels causes an increase in sodium-potassium (Na-K) adenosine triphosphatase (ATPase) activity that pushes potassium into the cells that result in serum hypokalemia that manifests as muscle weakness. Beta-adrenergic stimulation and insulin sensitivity might also play a role. Periodic paralysis is divided into hereditary and acquired forms. Thyrotoxic periodic paralysis is an acquired form of periodic paralysis that manifests as muscle weakness, hypokalemia, and hyperthyroidism. The onset of the symptoms is mainly over the age of 20 and can be triggered by intense physical activity, stress, and excessive carbohydrate intake. This review presents the different types of this disease (hypokalemic, hyperkalemic, thyrotoxic, and Andersen-Tawil syndrome) while presenting a unique case of T3 thyrotoxicosis causing periodic paralysis.