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ORPHA:93111  HNF1B-related autosomal dominant tubulointerstitial kidney disease

:: Activity limitation/participation restriction is described according to the Orphanet Functioning Thesaurus, derived and adapted from the International Classification of Functioning, Disability and Health – Children and Youth (ICF-CY, WHO 2007). The provided information is assessed from the whole patients’ population affected by the disease, receiving standard care and management (specific and/or symptomatic management, prevention and prophylaxis, devices and aids, care and support). Functional consequences are organized by their frequency in the patients’ population. This general information may not apply to specific cases. Some difficulties reported here can occur with a different temporality or severity degree, and others that are not listed can nevertheless arise.

 Loss of an ability
Frequent
Temporality
Severity
Practicing sports
Permanent limitation
Low
Occasional
Temporality
Severity
Acquiring language
Permanent limitation
Unspecified
Learning to read
Permanent limitation
Unspecified
Learning to write
Permanent limitation
Unspecified
Learning to calculate
Permanent limitation
Unspecified
Reading
Permanent limitation
Unspecified
Writing
Permanent limitation
Unspecified
Calculating
Permanent limitation
Unspecified
Focusing attention
Permanent limitation
Unspecified
Thinking and reasoning
Permanent limitation
Unspecified
Making decisions/taking initiatives/finding solutions
Permanent limitation
Unspecified
Using communication devices
Permanent limitation
Unspecified
Managing one's health (diet, medications, prevention, needs, assistance, monitoring)
Permanent limitation
Moderate
Handling stress, responsabilities, emergencies and ensuring one's safety
Permanent limitation
Moderate
Handling emotions and mood
Permanent limitation
Moderate
Controlling one's own general behaviour
Permanent limitation
Unspecified
Using transportation
Permanent limitation
Moderate
Driving
Permanent limitation
Moderate
Interacting with other people
Permanent limitation
Moderate
Making/keeping friends
Permanent limitation
Moderate
Maintaining family relationships
Permanent limitation
Moderate
Dealing with strangers
Permanent limitation
Moderate
Engaging in and maintaining intimate relationships
Permanent limitation
Moderate
Engaging in sexual relationships
Permanent limitation
Moderate
Attending mainstream school
Permanent limitation
Moderate
Learning a profession (vocational training/apprenticeship) in the standard environment
Permanent limitation
Moderate
Accessing higher education
Permanent limitation
Moderate
Engaging in paid work in a standard environment
Permanent limitation
Moderate
Seeking employment
Permanent limitation
Moderate
Performing professional tasks
Permanent limitation
Moderate
Carrying out administrative procedures
Permanent limitation
Moderate
Undertaking a complex/multiple task
Permanent limitation
Moderate
Carrying out daily routines
Permanent limitation
Moderate
Taking part in community life
Permanent limitation
Moderate
Playing with others
Permanent limitation
Moderate
Socializing
Permanent limitation
Moderate
Travelling
Permanent limitation
Moderate
Environmental factors

:: Following are the environmental factors that should be addressed in order to improve the functioning or limit the restrictions deriving from this disease.

Food
Source: Dr Laurence HEIDET[Expert]
Last update: 30/05/2017

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.