Patients with ADTKD-HNF1B can suffer from kidney cysts and other renal abnormalities that lead to a decrease of kidney function. Another prevalent symptom of ADTKD-HNF1B patients is disturbances of salt handling like magnesium and calcium. Low magnesium levels can cause several symptoms including muscle weakness and muscle twitching. Disturbed development and function of the pancreas might lead to diabetes at a young age (maturity-onset diabetes of the young (MODY) type 5). In addition, liver failure might occur and malformations of the genital tract and uterus are also observed. In some cases, autism spectrum disorder or mental retardation is diagnosed. An overactive thyroid is also seen is some cases which leads to disturbed metabolism of your body and can cause unintentional weight loss and an irregular heartbeat.
HNF1B