Klinische FragestellungHypoglykämie, familiärer Hyperinsulinismus; Differentialdiagnose

NGS +

[Sanger]

Gruppe von Erkrankungen: Hypoglykämie + familiärer Hyperinsulinismus reichen von schwerer neonataler Ausprägung bis zum Beginn der Kindheit mit leichten Symptomen und manifestiert sich bei Neugeborenen in Stunden bis Tagen nach der Geburt. In der Neugeborenenperiode können die Symptome unspezifisch sein, einschließlich Krampfanfälle, Hypotonie, schlechte Ernährung, Apnoe. Im Kindesalter manifestiert sich die Erkrankung in den ersten Lebensmonaten/-jahren, kann mit Anfällen einhergehen oder asymptomatisch sein. Innerhalb einer Familie können die Symptome von leicht bis schwer reichen.

• Allelic: 46XY sex reversal 2, dosage-sensitive (NR0B1)
• Allelic: Carcinoid tumor of lung (MEN1)
• Allelic: Diabetes mellitus, insulin-dependent, 20 (HNF1A)
• Allelic: Diabetes mellitus, insulin-resistant, with acanthosis nigricans (INSR)
• Allelic: Diabetes mellitus, type II (AKT2)
• Allelic: Erythrocyte lactate transporter defect (SLC16A1)
• Allelic: Hemolytic anemia due to hexokinase deficiency (HK1)
• Allelic: IMAGE syndrome (CDKN1C)
• Allelic: Leprechaunism (INSR)
• Allelic: MODY, type I (HNF4A)
• Allelic: MODY, type II (GCK)
• Allelic: MODY, type III (HNF1A)
• Allelic: Monocarboxylate transporter 1 deficiency (SLC16A1)
• Allelic: Neuropathy, hereditary motor + sensory, Russe type (HK1)
• Allelic: Obesity, susceptibility to, BMIQ4 (UCP2)
• Allelic: Rabson-Mendenhall syndrome (INSR)
• Allelic: Renal cell carcinoma (HNF1A)
• Allelic: Retinitis pigmentosa 79 (HK1)
• Allelic: Sinoatrial node dysfunction + deafness (CACNA1D)
• Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency (CYP21A2)
• Adrenal hypoplasia, congenital (NR0BB1)
• Allelic: Brugada syndrome 3 (CACNA1C)
• Allelic: Long QT syndrome 8 (CACNA1C)
• Beckwith-Wiedemann syndrome (CDKN1C)
• Congenital disorder of glycosylation, type Ia (PMM2)
• Diabetes mellitus, insulin-dependent (HNF1A)
• Diabetes, permanent neonatal 2, with/-out neurologic features (KCNJ11)
• Fructose-1,6-bisphosphatase deficiency (FBP1)
• Glycogen storage disease 0, liver (GYS2)
• Glycogen storage disease 0, muscle (GYS1)
• Glycogen storage disease Ia (G6PC1)
• Glycogen storage disease VI (PYGL)
• Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency (CYP21A2)
• Hyperinsulinemic hypoglycemia, familial, 1 (ABCC8)
• Hyperinsulinemic hypoglycemia, familial, 2 (KCNJ11)
• Hyperinsulinemic hypoglycemia, familial, 3 (GCK)
• Hyperinsulinemic hypoglycemia, familial, 4 (HADH)
• Hyperinsulinemic hypoglycemia, familial, 5 (INSR)
• Hyperinsulinemic hypoglycemia, familial, 7 (SLC16A1)
• Hyperinsulinism, AD [panelapp] (HNF1A)
• Hyperinsulinism, hypopituitarism, craniofac. + endoderm-deriv. organ abnorm., AD [panelapp] (FOXA2)
• Hyperinsulinism-hyperammonemia syndrome (GLUD1)
• Hypoinsulinemic hypoglycemia with hemihypertrophy (AKT2)
• Insulinomatosis + diabetes mellitus (MAFA)
• Kabuki syndrome 1 (KMT2D)
• Kabuki syndrome 2 (KDM6A)
• Multiple endocrine neoplasia 1 (MEN1)
• Neurodevelopmental disorder with visual defects + brain anomalies (HK1)
• Neurodevelopmental disorder. hypotonia, language delay, skeletal defects +/- seizures (CACNA1C)
• Primary aldosteronism, seizures, neurologic abnormalities (CANA1D)
• Schaaf-Yang syndrome (MAGEL2)
• Simpson-Golabi-Behmel syndrome, type (GPC3)
• Sotos syndrome (NSD1)
• Timothy syndrome (CACNA1C)